Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000668856 | SCV000793529 | likely pathogenic | Bardet-Biedl syndrome 12 | 2017-08-24 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001855509 | SCV002227719 | pathogenic | Bardet-Biedl syndrome | 2023-06-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Asp687Valfs*3) 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: 553411). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. This variant is present in population databases (rs766741204, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Lys430Glyfs*3) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 281 amino acid(s) of the BBS12 protein. |
| Fulgent Genetics, |
RCV000668856 | SCV002813122 | likely pathogenic | Bardet-Biedl syndrome 12 | 2021-07-23 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000668856 | SCV004211689 | likely pathogenic | Bardet-Biedl syndrome 12 | 2024-02-28 | criteria provided, single submitter | clinical testing |