Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520044 | SCV000620716 | likely pathogenic | not provided | 2017-09-12 | criteria provided, single submitter | clinical testing | The Y797X variant is not observed in large population cohorts (Lek et al., 2016). This nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although Y797X has not been previously reported to our knowledge, other nonsense variants in the CNTNAP2 gene have been reported in the Human Gene Mutation Database in association with CNTNAP2-related disorders (Stenson et al., 2014). |