ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val)

dbSNP: rs121917996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003588568 SCV004292123 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-01-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 68549). This missense change has been observed in individual(s) with clinical features of Dravet syndrome (PMID: 17347258, 35571373). 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 valine, which is neutral and non-polar, at codon 1480 of the SCN1A protein (p.Gly1480Val).
UniProtKB/Swiss-Prot RCV000059423 SCV000090947 not provided Myoclonic encephalopathy no assertion provided not provided

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