ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs)

dbSNP: rs1847237761
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241034 SCV001414023 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2019-10-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BAG3 gene (p.Lys344Argfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 232 amino acids of the BAG3 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BAG3 protein. Other variant(s) that disrupt this region (p.Leu423Lysfs*14) have been determined to be pathogenic (PMID: 24623017). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with BAG3-related conditions. This variant is not present in population databases (ExAC no frequency).

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