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 | |
| Labcorp Genetics |
RCV001246835 | SCV001420222 | pathogenic | Bardet-Biedl syndrome | 2023-06-04 | criteria provided, single submitter | clinical testing | 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. 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). |
| 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 |