ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3352G>T (p.Ala1118Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003752602 SCV004463676 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-06-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1118 of the SCN1A protein (p.Ala1118Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with febrile seizures (Invitae). In at least one individual the variant was observed to be de novo. 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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