ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.626T>C (p.Ile209Thr)

dbSNP: rs1600785769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002549209 SCV003253410 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-04-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 209 of the KCNQ2 protein (p.Ile209Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of KCNQ2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 812512). 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 KCNQ2 protein function. For these reasons, this variant has been classified as Pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001003342 SCV001147008 pathogenic Seizure 2020-01-28 no assertion criteria provided clinical testing

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