ClinVar Miner

Submissions for variant NM_004281.3(BAG3):c.892G>A (p.Val298Met) (rs150048651)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177195 SCV000229031 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Invitae RCV000233577 SCV000288312 uncertain significance Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 2018-07-21 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 298 of the BAG3 protein (p.Val298Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs150048651, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with dilated cardiomyopathy and a family affected with left ventricular noncompaction (PMID: 28798025), but also in one healthy control (PMID: 21353195). ClinVar contains an entry for this variant (Variation ID: 196379). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000249859 SCV000320190 uncertain significance Cardiovascular phenotype 2017-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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