Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

PubMed  PubMed Central  Article  Google Scholar 

Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, et al. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016;8(322):322ra9.

PubMed  PubMed Central  Google Scholar 

Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, et al. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting. Am J Hum Genet. 2019;104(2):275–86.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Johnston JJ, Brennan ML, Radenbaugh B, Yoo SJ, Hernandez SM, Core NRP, et al. The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort. Genet Med. 2022;24(3):736–43.

PubMed  Article  Google Scholar 

Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, et al. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel. Genet Med. 2018;20(3):351–9.

PubMed  PubMed Central  Article  Google Scholar 

Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, et al. Variant interpretation for dilated cardiomyopathy: refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. Circ Genom Precis Med. 2020;13(2):e002480.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, et al. Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Hum Mutat. 2022;43(8):1089–96.

PubMed  Article  Google Scholar 

Girodon E, Rebours V, Chen JM, Pagin A, Levy P, Férec C, et al. Clinical interpretation of PRSS1 variants in patients with pancreatitis. Clin Res Hepatol Gastroenterol. 2021;45(1):101497.

CAS  PubMed  Article  Google Scholar 

Girodon E, Rebours V, Chen JM, Pagin A, Lévy P, Férec C, et al. Clinical interpretation of SPINK1 and CTRC variants in pancreatitis. Pancreatology. 2020;20(7):1354–67.

CAS  PubMed  Article  Google Scholar 

Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, et al. Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines. Hum Mutat. 2020;41(9):1555–62.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, et al. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018;39(11):1553–68.

PubMed  PubMed Central  Article  Google Scholar 

Mester JL, Ghosh R, Pesaran T, Huether R, Karam R, Hruska KS, et al. Gene-specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018;39(11):1581–92.

PubMed  PubMed Central  Article  Google Scholar 

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593–613.

PubMed  PubMed Central  Article  Google Scholar 

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadalo L, et al. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: an ENIGMA resource to support clinical variant classification. Hum Mutat. 2019;40(9):1557–78.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, et al. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020;22(2):336–44.

PubMed  Article  Google Scholar 

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, et al. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Genet Med. 2017;19(10):1105–17.

PubMed  PubMed Central  Article  Google Scholar 

Houge G, Laner A, Cirak S, de Leeuw N, Scheffer H, den Dunnen JT. Stepwise ABC system for classification of any type of genetic variant. Eur J Hum Genet. 2022;30(2):150–9.

CAS  PubMed  Article  Google Scholar 

Kleeff J, Whitcomb DC, Shimosegawa T, Esposito I, Lerch MM, Gress T, et al. Chronic pancreatitis. Nat Rev Dis Prim. 2017;3:17060.

PubMed  Article  Google Scholar 

Ru N, Xu XN, Cao Y, Zhu JH, Hu LH, Wu SY, et al. The impacts of genetic and environmental factors on the progression of chronic pancreatitis. Clin Gastroenterol Hepatol. 2022;20(6):e1378–87.

PubMed  Article  CAS  Google Scholar 

Le Bodic L, Bignon JD, Raguenes O, Mercier B, Georgelin T, Schnee M, et al. The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum Mol Genet. 1996;5(4):549–54.

PubMed  Article  Google Scholar 

Whitcomb DC, Preston RA, Aston CE, Sossenheimer MJ, Barua PS, Zhang Y, et al. A gene for hereditary pancreatitis maps to chromosome 7q35. Gastroenterology. 1996;110(6):1975–80.

CAS  PubMed  Article  Google Scholar 

Pandya A, Blanton SH, Landa B, Javaheri R, Melvin E, Nance WE, et al. Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics. 1996;38(2):227–30.

CAS  PubMed  Article  Google Scholar 

Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996;14(2):141–5.

CAS  PubMed  Article  Google Scholar 

Masson E, Rebours V, Buscail L, Frete F, Pagenault M, Lachaux A, et al. The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis. Hum Mutat. 2021;42(4):385–91.

CAS  PubMed  Article  Google Scholar 

Chen JM, Férec C. Chronic pancreatitis: genetics and pathogenesis. Annu Rev Genom Hum Genet. 2009;10:63–87.

CAS  Article  Google Scholar 

Masson E, Zou WB, Génin E, Cooper DN, Le Gac G, Fichou Y, et al. A proposed general variant classification framework using chronic pancreatitis as a disease model. medRxiv 2022.06.03.22275950; https://doi.org/10.1101/2022.06.03.22275950 2022.

Le Maréchal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, et al. Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet. 2006;38(12):1372–4.

PubMed  Article  CAS  Google Scholar 

Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med. 1998;339(10):653–8.

CAS  PubMed  Article  Google Scholar 

Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998;339(10):645–52.

CAS  PubMed  Article  Google Scholar 

Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 2000;25(2):213–6.

CAS  PubMed  Article  Google Scholar 

Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvari B, Landt O, et al. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. Nat Genet. 2008;40(1):78–82.

CAS  PubMed  Article  Google Scholar 

Masson E, Chen JM, Scotet V, Le Maréchal C, Férec C. Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet. 2008;123(1):83–91.

CAS  PubMed  Article  Google Scholar 

Masson E, Chen JM, Audrézet MP, Cooper DN, Férec C. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. PLoS ONE. 2013;8(8):e73522.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bodeker H, et al. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? Gut. 2013;62(4):582–92.

CAS  PubMed  Article  Google Scholar 

Jalaly NY, Moran RA, Fargahi F, Khashab MA, Kamal A, Lennon AM, et al. An evaluation of factors associated with pathogenic PRSS1, SPINK1, CTFR, and/or CTRC genetic variants in patients with idiopathic pancreatitis. Am J Gastroenterol. 2017;112(8):1320–9.

CAS  PubMed  Article  Google Scholar 

Zou WB, Tang XY, Zhou DZ, Qian YY, Hu LH, Yu FF, et al. SPINK1, PRSS1, CTRC, and CFTR genotypes influence disease onset and clinical outcomes in chronic pancreatitis. Clin Transl Gastroenterol. 2018;9(11):204.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Cho SM, Shin S, Lee KA. PRSS1, SPINK1, CFTR, and CTRC pathogenic variants in Korean patients with idiopathic pancreatitis. Ann Lab Med. 2016;36(6):555–60.

CAS  PubMed  PubMed Central  Article