ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)

dbSNP: rs794726760
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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 RCV000180874 SCV000221843 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000180874 SCV000693795 likely pathogenic Severe myoclonic epilepsy in infancy 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515208 SCV003524747 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-08-05 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: 189922). This missense change has been observed in individual(s) with Dravet syndrome and/or epileptic encephalopathy (PMID: 9573403, 31780880). 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 serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1666 of the SCN1A protein (p.Ser1666Phe).

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