Submissions for variant NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)

gnomAD frequency: 0.14532  dbSNP: rs2234962

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000037893	SCV000051515	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037893	SCV000061555	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Cys151Arg in Exon 02 of BAG3: This variant is not expected to have clinical si gnificance because it has been identified in 20.5% (1437/7016) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs2234962).
Eurofins Ntd Llc (ga)	RCV000037893	SCV000112806	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000037893	SCV000167154	benign	not specified	2014-01-08	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.
PreventionGenetics, part of Exact Sciences	RCV000037893	SCV000310056	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243456	SCV000317455	benign	Cardiovascular phenotype	2015-06-19	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.
Illumina Laboratory Services, Illumina	RCV000369042	SCV000360562	benign	Myofibrillar myopathy 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000276835	SCV000360563	benign	Dilated cardiomyopathy 1HH	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811266	SCV000885057	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037893	SCV001361938	likely benign	not specified	2020-08-11	criteria provided, single submitter	clinical testing
Invitae	RCV001517578	SCV001726101	benign	Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000369042	SCV001774992	benign	Myofibrillar myopathy 6	2021-07-14	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037893	SCV001739985	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037893	SCV001919848	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037893	SCV001956630	benign	not specified		no assertion criteria provided	clinical testing