ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.1296A>G (p.Val432=) (rs196295)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243961 SCV000317601 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000576644 SCV000677139 benign Myofibrillar myopathy, BAG3-related 2017-06-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037886 SCV000112805 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000037886 SCV000167160 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.
Illumina Clinical Services Laboratory,Illumina RCV000399004 SCV000360597 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280713 SCV000360598 benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590573 SCV000698276 benign not provided 2017-08-04 criteria provided, single submitter clinical testing Variant summary: The BAG3 c.1296A>G (p.Val432Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESEfinder predicts that it affects binding of multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 89871/121300 control chromosomes (33720 homozygotes) from ExAC at a frequency of 0.7408986, which is approximately 18967 times the estimated maximal expected allele frequency of a pathogenic BAG3 variant (0.0000391), thus this variant is a very common benign polymorphism and allele G the wildtype allele at this position. In addition, multiple clinical diagnostic laboratories have classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Taken together, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037886 SCV000061548 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Val432Val in Exon 04 of BAG3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 24.3% (909/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs196295).
PreventionGenetics RCV000037886 SCV000310049 benign not specified criteria provided, single submitter clinical testing

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