ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val)

dbSNP: rs1553525210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557695 SCV000633856 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1370 of the SCN1A protein (p.Ala1370Val). 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: 461269). This missense change has been observed in individual(s) with severe myoclonic epilepsy of infancy (PMID: 22028529). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).

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