ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)

dbSNP: rs121917936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513781 SCV003524853 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 217 of the SCN1A protein (p.Thr217Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with severe myoclonic epilepsy of infancy (PMID: 17054684). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68577). 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. For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000059453 SCV000090978 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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