Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638355 | SCV000759852 | pathogenic | Bardet-Biedl syndrome | 2017-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr471*) in the BBS7 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS7-related disease. Loss-of-function variants in BBS7 are known to be pathogenic (PMID: 12567324). For these reasons, this variant has been classified as Pathogenic. |