ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His)

dbSNP: rs796052645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187896 SCV000241498 pathogenic not provided 2020-03-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26007637, 25959266)
Labcorp Genetics (formerly Invitae), Labcorp RCV001376923 SCV001574123 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-07-25 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with early infantile epileptic encephalopathy (PMID: 25959266). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg353 amino acid residue in KCNQ2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29726930). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 205899). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 353 of the KCNQ2 protein (p.Arg353His).
GeneReviews RCV000678162 SCV000484607 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only EE (epileptic encephalopathy)

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