ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.534C>G (p.Asp178Glu)

dbSNP: rs1847160690
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001909034 SCV002169857 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2024-04-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 178 of the BAG3 protein (p.Asp178Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1403403). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002469427 SCV002765172 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Revvity Omics, Revvity RCV002469427 SCV003829734 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004996088 SCV005542209 likely benign Cardiovascular phenotype 2024-11-22 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.

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