Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693381 | SCV000821248 | pathogenic | Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly | 2017-12-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg472*) in the WDR35 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs767751856, ExAC 0.001%). This variant has not been reported in the literature in individuals with WDR35-related disease. Loss-of-function variants in WDR35 are known to be pathogenic (PMID: 21473986, 25908617). For these reasons, this variant has been classified as Pathogenic. |