Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000670273 | SCV000795107 | likely pathogenic | Bardet-Biedl syndrome 12 | 2017-10-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001861789 | SCV002213800 | pathogenic | Bardet-Biedl syndrome | 2023-09-21 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 554604). 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.Gln685*) 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. This variant has not been reported in the literature in individuals affected with BBS12-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr458Asnfs*5) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 253 amino acid(s) of the BBS12 protein. |
| Baylor Genetics | RCV000670273 | SCV004211656 | pathogenic | Bardet-Biedl syndrome 12 | 2024-01-30 | criteria provided, single submitter | clinical testing |