Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068039 | SCV001233128 | pathogenic | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2023-08-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly169 amino acid residue in ARL6. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15314642, 19236846). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 861499). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Gly169Alafs*6) in the ARL6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acid(s) of the ARL6 protein. |