ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)

dbSNP: rs121918770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246264 SCV001419605 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SCN1A function (PMID: 17054685). 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: 68658). This missense change has been observed in individual(s) with severe myoclonic epilepsy of infancy or Dravet syndrome (PMID: 12821740, 27236449). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 177 of the SCN1A protein (p.Gly177Glu).
UniProtKB/Swiss-Prot RCV000059538 SCV000091070 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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