Total submissions: 2
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. |
Gene |
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) |