Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381060 | SCV001579312 | pathogenic | Bardet-Biedl syndrome | 2020-03-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). This variant has not been reported in the literature in individuals with BBS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg298Glyfs*8) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. |