Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690701 | SCV000818401 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2018-03-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1325Lysfs*7) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with generalized epilepsy with febrile seizures plus (PMID: 21488303).  This variant has also been reported as c.3972insT. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic. |