Submissions for variant NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)

gnomAD frequency: 0.00005  dbSNP: rs374476363

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001530044	SCV000723822	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing
Invitae	RCV000863253	SCV001003883	likely benign	Lethal congenital glycogen storage disease of heart	2024-01-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001182035	SCV001347357	likely benign	Cardiomyopathy	2018-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002395594	SCV002703253	likely benign	Cardiovascular phenotype	2019-05-13	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530044	SCV001744579	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000613519	SCV001917808	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530044	SCV001930849	likely benign	not provided		no assertion criteria provided	clinical testing