ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) (rs397515406)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813544 SCV000953908 pathogenic Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2018-07-15 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 796 of the KCNT1 protein (p.Tyr796His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in several individuals affected with epileptic encephalopathy (PMID: 26369628, 29186148, 25590979) and reported to segregate in a family affected with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (PMID: 23086396) . ClinVar contains an entry for this variant (Variation ID: 39598). Experimental studies have shown that this missense change alters the channels activity (PMID: 24591078, 26269628). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000032798 SCV000056566 pathogenic Epilepsy, nocturnal frontal lobe, 5 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000032798 SCV000211890 pathogenic Epilepsy, nocturnal frontal lobe, 5 2015-02-19 no assertion criteria provided literature only

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