ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)

dbSNP: rs1689242255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195896 SCV001366320 pathogenic Migraine, familial hemiplegic, 3 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PP2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001863098 SCV002219908 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-10-23 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: 930321). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 18930999). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 1781 of the SCN1A protein (p.Tyr1781His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine.

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