ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.946C>T (p.Gln316Ter)

dbSNP: rs1847236072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042302 SCV001205978 pathogenic Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BAG3 protein in which other variant(s) (p.Leu423Lysfs*14, p.Tyr441*) have been determined to be pathogenic (PMID: 24623017, 25008357). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 840339). This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 28611029). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln316*) in the BAG3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 260 amino acid(s) of the BAG3 protein.
GeneDx RCV001550024 SCV001770289 likely pathogenic not provided 2019-04-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant in the C-terminus predicted to result in protein truncation and the loss of the last 261 amino acids; Other loss-of-function variants in BAG3 have been reported downstream in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 28611029)

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