Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Inherited Metabolic Diseases, |
RCV001375622 | SCV001572544 | pathogenic | Severe myoclonic epilepsy in infancy | 2021-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001390716 | SCV001592517 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-03-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1065174). This variant is also known as Trp1193X. This premature translational stop signal has been observed in individual(s) with Dravet syndrome (PMID: 11940708, 31864146). This sequence change creates a premature translational stop signal (p.Trp1204*) 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). |