Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760806 | SCV000890701 | pathogenic | not provided | 2018-10-23 | criteria provided, single submitter | clinical testing | A pathogenic variant has been identified in the WDR62 gene. The W386X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W386X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W386X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, we interpret W386X as a pathogenic variant. |