Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000688699 | SCV000816321 | pathogenic | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2018-06-20 | criteria provided, single submitter | clinical testing | Loss-of-function variants in WWOX are known to be pathogenic (PMID: 25411445). This sequence change creates a premature translational stop signal (p.Glu195*) in the WWOX 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 WWOX-related disease. For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV000760719 | SCV000890611 | likely pathogenic | not provided | 2018-09-12 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the WWOX gene. The E195X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E195X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E195X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |