Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218479 | SCV001390361 | pathogenic | Bardet-Biedl syndrome | 2022-08-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TRIM32 protein in which other variant(s) (p.Met370Cysfs*10, p.Leu457Phefs*43) have been determined to be pathogenic (Invitae). 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: 947407). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu253Hisfs*31) in the TRIM32 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 401 amino acid(s) of the TRIM32 protein. |