ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)

dbSNP: rs121918789
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091662 SCV001247837 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center 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).
UniProtKB/Swiss-Prot RCV000059510 SCV000091036 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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