Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671908 | SCV000796941 | likely pathogenic | Bardet-Biedl syndrome 12 | 2018-01-05 | criteria provided, single submitter | clinical testing | |
| Blueprint Genetics | RCV001075655 | SCV001241282 | likely pathogenic | Retinal dystrophy | 2019-03-07 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001855571 | SCV002194393 | pathogenic | Bardet-Biedl syndrome | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu254*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 457 amino acid(s) of the BBS12 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 555983). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV000671908 | SCV004211663 | likely pathogenic | Bardet-Biedl syndrome 12 | 2023-09-29 | criteria provided, single submitter | clinical testing |