Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241641 | SCV001414672 | pathogenic | Bardet-Biedl syndrome | 2021-01-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 966862). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly412Glufs*12) 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). |