Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001229655 | SCV001402108 | pathogenic | Bardet-Biedl syndrome | 2023-10-08 | criteria provided, single submitter | clinical testing | This variant, c.590_592del, results in the deletion of 1 amino acid(s) of the BBS10 protein (p.Tyr197del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant has been observed in individual(s) with clinical features of BBS10-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 956783). This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Tyr197Cys) have been determined to be pathogenic (PMID: 16582908, 20498079, 35112343; 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. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002497781 | SCV002785842 | uncertain significance | Bardet-Biedl syndrome 10 | 2021-09-02 | criteria provided, single submitter | clinical testing |