ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)

dbSNP: rs121917938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059459 SCV000221956 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV003588570 SCV004292147 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-12-31 criteria provided, single submitter clinical testing 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: 68583). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 12821740, 30185235). In at least one individual the variant was observed to be de novo. 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 280 of the SCN1A protein (p.Trp280Arg).
UniProtKB/Swiss-Prot RCV000059459 SCV000090984 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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