Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627317 | SCV000748309 | likely pathogenic | not provided | 2018-03-21 | criteria provided, single submitter | clinical testing | The W2X 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. Although, the W2X variant has not been previously reported to our knowledge, other nonsense variants in the ALDH7A1 gene have been reported in the Human Gene Mutation Database in association with pyridoxine-dependent epilepsy (Stenson et al., 2014). |