Submissions for variant NM_004281.4(BAG3):c.25A>G (p.Met9Val)

gnomAD frequency: 0.00175  dbSNP: rs137965903

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154683	SCV000167162	benign	not specified	2014-04-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154683	SCV000204361	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Met9Val in exon 1 of BAG3: This variant is not expected to have clinical signifi cance because it has been identified in 0.3% (13/3734) of African American chrom osomes from a broad population by the NHLBI Exome Sequencing Project (http://evs .gs.washington.edu/EVS; dbSNP rs137965903).
Invitae	RCV000226527	SCV000288304	benign	Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000154683	SCV000310054	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705902	SCV000602619	benign	not provided	2023-01-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620469	SCV000736532	benign	Cardiovascular phenotype	2016-01-21	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154683	SCV002041664	likely benign	not specified	2021-11-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154683	SCV001920324	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705902	SCV001931643	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705902	SCV001954211	likely benign	not provided		no assertion criteria provided	clinical testing