ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1655_1692del (p.Pro552fs)

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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 RCV003799018 SCV004584364 uncertain significance Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2023-08-20 criteria provided, single submitter clinical testing This variant disrupts a region of the BAG3 protein in which other variant(s) (p.Ala558Val) have been observed in individuals with BAG3-related conditions (PMID: 25728519). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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. This variant has not been reported in the literature in individuals affected with BAG3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro552Hisfs*7) in the BAG3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the BAG3 protein.

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