ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1289A>T (p.Glu430Val)

gnomAD frequency: 0.00001  dbSNP: rs748744340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977163 SCV002248265 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2021-08-31 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 with BAG3-related conditions. This variant is present in population databases (rs748744340, ExAC 0.002%). This sequence change replaces glutamic acid with valine at codon 430 of the BAG3 protein (p.Glu430Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine.

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