Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091662 | SCV001247837 | pathogenic | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001253411 | SCV001429105 | pathogenic | Generalized epilepsy with febrile seizures plus, type 2 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001854245 | SCV002231501 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-09-01 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with Dravet syndrome (PMID: 12754708, 18076640). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN1A protein function. ClinVar contains an entry for this variant (Variation ID: 68631). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1434 of the SCN1A protein (p.Trp1434Arg). |
Uni |
RCV000059510 | SCV000091036 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |