ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)

dbSNP: rs796052626
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229923 SCV001402386 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 210 of the KCNQ2 protein (p.Arg210Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with KCNQ2-related benign familial neonatal epilepsy (PMID: 28602030). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 205873). 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 with a positive predictive value of 95%. This variant disrupts the p.Arg210 amino acid residue in KCNQ2. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002273975 SCV002559154 pathogenic Seizures, benign familial neonatal, 1 criteria provided, single submitter clinical testing
Baylor Genetics RCV000678132 SCV003835162 likely pathogenic Developmental and epileptic encephalopathy, 7 2021-12-24 criteria provided, single submitter clinical testing
GeneReviews RCV000678132 SCV000484569 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only EE (epileptic encephalopathy)
Diagnostic Laboratory, Strasbourg University Hospital RCV001089801 SCV001244218 pathogenic Intellectual disability 2017-12-01 no assertion criteria provided clinical testing

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