Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233481 | SCV001406078 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2019-10-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). This variant has been observed in individual(s) with Dravet syndrome (PMID: 18930999). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys1061*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. |