ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)

dbSNP: rs794726809
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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 RCV000180931 SCV000221911 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000180931 SCV001572554 pathogenic Severe myoclonic epilepsy in infancy 2021-04-25 criteria provided, single submitter clinical testing
Invitae RCV002516539 SCV003524750 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-05-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1471 of the SCN1A protein (p.Ser1471Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SCN1A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 189976). 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. For these reasons, this variant has been classified as Pathogenic.

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