Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636325 | SCV000757764 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2017-12-06 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 not been reported in the literature in individuals with SCN1A-related disease. This sequence change creates a premature translational stop signal (p.Arg1445*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. |