Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067138 | SCV001232178 | pathogenic | Bardet-Biedl syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp487 amino acid residue in TRIM32. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID:11822024, 21775502, 15786463). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the TRIM32 gene (p.Leu457Phefs*43). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 197 amino acids of the TRIM32 protein. |