ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) (rs796052618)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187853 SCV000241453 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32860008, 28628100, 23934111, 25740509, 29186148, 30440138, 29655203, 30174244)
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000408747 SCV000598136 pathogenic Early infantile epileptic encephalopathy 7 2016-06-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000187853 SCV001249243 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000408747 SCV001426583 pathogenic Early infantile epileptic encephalopathy 7 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000187853 SCV001448113 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001386878 SCV001587273 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-07-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 144 of the KCNQ2 protein (p.Arg144Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with KCNQ2-related conditions (PMID: 23934111, 28628100). In at least one individual the variant was observed to be de novo. This variant is also known as chr20:62076674 C>T. ClinVar contains an entry for this variant (Variation ID: 205864). Experimental studies have shown that this variant affects KCNQ2 protein function (PMID: 25740509). 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.
Laboratoire Génétique Moléculaire, CHRU TOURS RCV000187853 SCV001760741 likely pathogenic not provided 2020-01-16 criteria provided, single submitter clinical testing
GeneReviews RCV000408747 SCV000484553 pathogenic Early infantile epileptic encephalopathy 7 2016-03-31 no assertion criteria provided literature only Infantile spasms
Diagnostic Laboratory, Strasbourg University Hospital RCV001089802 SCV001244216 likely pathogenic Intellectual disability 2016-12-01 no assertion criteria provided clinical testing

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