Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539067 | SCV000633846 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2017-07-06 | criteria provided, single submitter | clinical testing | 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 variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1144Thrfs*3) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |