Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513023 | SCV003524790 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-08 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 1270 of the SCN1A protein (p.Lys1270Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with generalized epilepsy with febrile seizures plus (GEFS+) (PMID: 11756608). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12891). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000013751 | SCV000033998 | pathogenic | Generalized epilepsy with febrile seizures plus, type 2 | 2001-12-26 | no assertion criteria provided | literature only | |
Uni |
RCV000059501 | SCV000091027 | not provided | Generalized epilepsy with febrile seizures plus, type 1 | no assertion provided | not provided |