ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)

dbSNP: rs1553551493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585806 SCV000693816 likely pathogenic Severe myoclonic epilepsy in infancy 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV001853962 SCV002127555 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-09-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 165 of the SCN1A protein (p.Tyr165His). 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 and/or generalized epilepsy with febrile seizures, plus (PMID: 31780880, 35571373). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 495270). 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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