ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)

dbSNP: rs794726779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180895 SCV000221871 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV002515210 SCV003524816 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1362 of the SCN1A protein (p.Ser1362Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 26096185). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 189942). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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