Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579313 | SCV000680681 | pathogenic | not provided | 2017-11-28 | criteria provided, single submitter | clinical testing | The E609X variant in the ZEB2 gene has been reported previously in an individual with Mowat-Wilson syndrome (Yamada et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E609X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E609X as a pathogenic variant. |