Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213375 | SCV001385003 | pathogenic | Bardet-Biedl syndrome | 2021-01-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with WDPCP-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in WDPCP are known to be pathogenic (PMID: 20671153). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala626Lysfs*3) in the WDPCP gene. It is expected to result in an absent or disrupted protein product. |