Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493171 | SCV000582564 | pathogenic | not provided | 2017-05-17 | criteria provided, single submitter | clinical testing | The E1261X variant in the SCN4A gene has been reported previously to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E1261X variant is not observed at any significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret E1261X as a pathogenic variant. |