ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.322G>A (p.Val108Met)

gnomAD frequency: 0.00001  dbSNP: rs730880053
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857552 SCV002317879 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-09-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 180281). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant is present in population databases (rs730880053, ExAC 0.009%). This sequence change replaces valine with methionine at codon 108 of the BAG3 protein (p.Val108Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine.
Fulgent Genetics, Fulgent Genetics RCV001857552 SCV002797730 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-09-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157120 SCV000206843 uncertain significance Primary dilated cardiomyopathy 2014-12-01 no assertion criteria provided clinical testing

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