ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.684C>A (p.His228Gln)

dbSNP: rs118192204
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226409 SCV001398722 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-09-22 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 228 of the KCNQ2 protein (p.His228Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with benign familial neonatal seizures (PMID: 4055306, 14534157; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 21797). 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.
GeneReviews RCV000678089 SCV000041652 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)
Channelopathy-Associated Epilepsy Research Center RCV003315302 SCV004015074 not provided Complex neurodevelopmental disorder no assertion provided literature only

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