ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.172G>A (p.Gly58Arg)

dbSNP: rs1553560785
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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 RCV001377989 SCV001575454 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 58 of the SCN1A protein (p.Gly58Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SCN1A-related autosomal dominant conditions (PMID: 24848745; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 1066871). 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.Gly58 amino acid residue in SCN1A. Other variant(s) that disrupt this residue have been observed in individuals with SCN1A-related conditions (PMID: 18930999), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

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