Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001868296 | SCV002240088 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-08-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1284*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with SCN1A -related conditions (PMID: 26993267). ClinVar contains an entry for this variant (Variation ID: 560662). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Clinical Molecular Genetics Laboratory, |
RCV000678840 | SCV000805029 | likely pathogenic | Primary generalized epilepsy | 2016-08-03 | no assertion criteria provided | clinical testing |