Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001244810 | SCV001418054 | pathogenic | Bardet-Biedl syndrome | 2023-09-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS1 protein in which other variant(s) (p.Leu548Trpfs*31) have been determined to be pathogenic (PMID: 12677556, 12837689). 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: 969455). This premature translational stop signal has been observed in individual(s) with BBS1-related conditions (PMID: 25170860, 29099798). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu539Cysfs*40) in the BBS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the BBS1 protein. |
| Gene |
RCV002564089 | SCV003194893 | likely pathogenic | not provided | 2022-07-13 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 55 amino acids are replaced with 39 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); Identified in an individual in published literature with a clinical diagnosis of Bardet-Biedl syndrome who also harbored a second pathogenic variant in BBS1, although the phase of these two variants was not confirmed (Denniston et al., 2014); This variant is associated with the following publications: (PMID: 25170860, 29099798) |