ClinVar Miner

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

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Total submissions: 4
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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 2019-03-05 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
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

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