Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000693654 | SCV000821531 | pathogenic | Bardet-Biedl syndrome | 2023-03-11 | 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.Ser701*) have been determined to be pathogenic (PMID: 20648243). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 572304). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (Invitae). This variant is present in population databases (rs746478265, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asp687Valfs*3) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the BBS12 protein. |
| Fulgent Genetics, |
RCV001535937 | SCV001752595 | pathogenic | Bardet-Biedl syndrome 12 | 2021-06-30 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003314637 | SCV004014270 | likely pathogenic | not provided | 2023-07-15 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 24 amino acids are replaced with 2 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |