ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)

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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 RCV002991422 SCV003305605 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-01-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gly472*) in the BAG3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 104 amino acid(s) of the BAG3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant disrupts a region of the BAG3 protein in which other variant(s) (p.Arg473*) have been determined to be pathogenic (PMID: 28436997, 32160020; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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