Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671801 | SCV000796821 | likely pathogenic | Bardet-Biedl syndrome 12 | 2018-01-08 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001246835 | SCV001420222 | pathogenic | Bardet-Biedl syndrome | 2023-06-04 | 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.Arg675*) have been determined to be pathogenic (PMID: 20827784, 21642631). 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: 555890). 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.Asp142Glyfs*10) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 569 amino acid(s) of the BBS12 protein. |
| Fulgent Genetics, |
RCV000671801 | SCV002811004 | likely pathogenic | Bardet-Biedl syndrome 12 | 2022-04-12 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000671801 | SCV004211709 | likely pathogenic | Bardet-Biedl syndrome 12 | 2022-10-24 | criteria provided, single submitter | clinical testing |