ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4925G>T (p.Arg1642Met)

dbSNP: rs1573952908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815477 SCV000955933 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-08-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 658621). 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. This variant disrupts the p.Arg1642 amino acid residue in SCN1A. Other variant(s) that disrupt this residue have been observed in individuals with SCN1A-related conditions (PMID: 23195492), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with early-onset epilepsy (PMID: 25459968; Invitae). In at least one individual the variant was observed to be de novo. This sequence change replaces arginine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 1642 of the SCN1A protein (p.Arg1642Met). This variant is not present in population databases (gnomAD no frequency).

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