Submissions for variant NM_016203.4(PRKAG2):c.42T>A (p.Val14=)

gnomAD frequency: 0.00001  dbSNP: rs141316327

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038941	SCV000062619	likely benign	not specified	2011-04-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777974	SCV000914078	likely benign	Cardiomyopathy	2018-09-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001785466	SCV002027683	uncertain significance	not provided	2021-05-20	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Reported in ClinVar as a likely benign variant (ClinVar Variant ID# 45719; Landrum et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054723	SCV002373796	likely benign	Lethal congenital glycogen storage disease of heart	2024-02-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996421	SCV004842345	likely benign	Hypertrophic cardiomyopathy	2023-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004649065	SCV005149141	likely benign	Cardiovascular phenotype	2024-05-06	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.