Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760690 | SCV000890582 | likely pathogenic | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | The W423X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The W423X variant is not observed in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |