ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)

dbSNP: rs121918788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001530193 SCV001739485 likely pathogenic Severe myoclonic epilepsy in infancy 2020-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568884 SCV003310613 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-04-24 criteria provided, single submitter clinical testing 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 sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 931 of the SCN1A protein (p.Arg931Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epileptic encephalopathy (PMID: 34539730). In at least one individual the variant was observed to be de novo. This variant is also known as c.2758C>A (p.Arg920Ser). ClinVar contains an entry for this variant (Variation ID: 1175195). This variant disrupts the p.Arg931 amino acid residue in SCN1A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12083760, 18076640). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Department of Developmental Neurology, Medical University of Gdańsk RCV001530193 SCV004100902 not provided Severe myoclonic epilepsy in infancy no assertion provided phenotyping only

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