Submissions for variant NM_004281.4(BAG3):c.771C>T (p.Pro257=)

gnomAD frequency: 0.00028  dbSNP: rs200212999

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150179	SCV000197093	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Pro257Pro in exon 3 of BAG3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 2/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). Pro257Pro in exon 3 of BAG3 (allele frequency = 2/7020) **
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088594	SCV000288308	likely benign	Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000150179	SCV000310059	likely benign	not specified		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000230044	SCV001148107	uncertain significance	not provided	2016-05-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000230044	SCV001757195	likely benign	not provided	2019-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399520	SCV002674469	likely benign	Cardiovascular phenotype	2019-05-23	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000230044	SCV001743993	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000150179	SCV001917343	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000230044	SCV001929903	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000230044	SCV001951171	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000230044	SCV001970585	likely benign	not provided		no assertion criteria provided	clinical testing