ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) (rs397515405)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044165 SCV001207946 pathogenic Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-02-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 928 of the KCNT1 protein (p.Arg928Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs397515405, ExAC 0.02%). This variant has been observed to segregate with autosomal dominant nocturnal frontal lobe epilepsy in families (PMID: 23086396, 26122718). ClinVar contains an entry for this variant (Variation ID: 39597). This variant has been reported to affect KCNT1 protein function (PMID: 24591078, 25482562). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091224 SCV001247127 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000032797 SCV001523119 pathogenic Epilepsy, nocturnal frontal lobe, 5 2020-07-07 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001091224 SCV001716060 pathogenic not provided 2020-11-24 criteria provided, single submitter clinical testing PS3, PS4_moderate, PM2, PP1, PP3, PP4
OMIM RCV000032797 SCV000056565 pathogenic Epilepsy, nocturnal frontal lobe, 5 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000032797 SCV000211892 pathogenic Epilepsy, nocturnal frontal lobe, 5 2015-02-19 no assertion criteria provided literature only
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000032797 SCV001752425 pathogenic Epilepsy, nocturnal frontal lobe, 5 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001091224 SCV001930182 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001091224 SCV001955840 pathogenic not provided no assertion criteria provided clinical testing

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