ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala)

dbSNP: rs1057516076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003588619 SCV004297364 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 114 of the KCNQ2 protein (p.Thr114Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with KCNQ2-related conditions (PMID: 25982755; Invitae). ClinVar contains an entry for this variant (Variation ID: 369741). 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. This variant disrupts the p.Thr114 amino acid residue in KCNQ2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22926866). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000678116 SCV000484551 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy) with later seizure recurrence

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