Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657800 | SCV000779553 | likely pathogenic | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | The W389X variant in the DSC2 gene has not been reported as pathogenic or benign to our knowledge. W389X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the DSC2 gene have been reported in Human Gene Mutation Database in association with ARVC and cardiac arrest (Stenson et al., 2014). Furthermore, the W389X variant is not observed in large population cohorts (Lek et al., 2016). Nevertheless, the W389X variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity. |