Submissions for variant NM_001868.4(CPA1):c.492G>A (p.Thr164=)

gnomAD frequency: 0.00016  dbSNP: rs369058363

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000932716	SCV001078403	likely benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002319130	SCV001185133	likely benign	Hereditary pancreatitis	2018-12-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000932716	SCV004010728	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CPA1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000932716	SCV005226744	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003925804	SCV004740015	likely benign	CPA1-related disorder	2019-09-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).