Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480414 | SCV000573554 | likely pathogenic | not provided | 2017-02-24 | criteria provided, single submitter | clinical testing | The E362X variant in the CACNA1A gene has not been reported previously as a pathogenic variantnor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The E362X variant isnot observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015;Exome Variant Server). We interpret E362X as a likely pathogenic variant |