ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)

dbSNP: rs121918626
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Total submissions: 3
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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
UniProtKB/Swiss-Prot RCV000059501 SCV000091027 not provided Generalized epilepsy with febrile seizures plus, type 1 no assertion provided not provided

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