Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410229 | SCV000486814 | pathogenic | Bardet-Biedl syndrome 1 | 2016-08-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001239133 | SCV001411984 | pathogenic | Bardet-Biedl syndrome | 2023-09-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371274). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (BBS) (PMID: 12677556, 25170860). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln291*) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803). |
Fulgent Genetics, |
RCV000410229 | SCV002782599 | pathogenic | Bardet-Biedl syndrome 1 | 2021-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003409566 | SCV004114440 | pathogenic | BBS1-related condition | 2023-09-14 | criteria provided, single submitter | clinical testing | The BBS1 c.871C>T variant is predicted to result in premature protein termination (p.Gln291*). This variant has previously been reported to be causative for Bardet-Biedl Syndrome (Beales et al. 2003. PubMed ID: 12677556). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in BBS1 are expected to be pathogenic. This variant is interpreted as pathogenic. |