ClinVar Miner

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

dbSNP: rs397515406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813544 SCV000953908 pathogenic Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2018-07-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change alters the channels activity (PMID: 24591078, 26269628). 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). This variant is not present in population databases (ExAC no frequency). 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.
Duke University Health System Sequencing Clinic, Duke University Health System RCV000032798 SCV003919082 likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-04-20 criteria provided, single submitter research
OMIM RCV000032798 SCV000056566 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5 2012-11-01 no assertion criteria provided literature only
GeneReviews RCV000032798 SCV000211890 not provided Autosomal dominant nocturnal frontal lobe epilepsy 5 no assertion provided literature only

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