Submissions for variant NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)

gnomAD frequency: 0.00001  dbSNP: rs1476121151

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000641197	SCV000762835	likely benign	Lethal congenital glycogen storage disease of heart	2023-12-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001176622	SCV001340658	likely benign	Cardiomyopathy	2019-10-01	criteria provided, single submitter	clinical testing
GeneDx	RCV002222573	SCV002499820	uncertain significance	not provided	2022-04-07	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing
Ambry Genetics	RCV002360569	SCV002662033	likely benign	Cardiovascular phenotype	2020-03-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.