ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1210G>A (p.Glu404Lys)

dbSNP: rs1165453591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918633 SCV002177813 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-07-28 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 404 of the BAG3 protein (p.Glu404Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Revvity Omics, Revvity RCV003146339 SCV003829770 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing

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