ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1187C>T (p.Ala396Val)

dbSNP: rs769416305
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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 RCV001359981 SCV001555872 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2020-08-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs769416305, ExAC 0.002%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The valine 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. This variant has not been reported in the literature in individuals with BAG3-related conditions. This sequence change replaces alanine with valine at codon 396 of the BAG3 protein (p.Ala396Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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