ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) (rs886044717)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650650 SCV000772497 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-09-29 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with isoleucine at codon 932 of the KCNT1 protein (p.Phe932Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with infantile epileptic encephalopathy (EIEE) and leukoencephalopathy (PMID: 24120652, 27159321). ClinVar contains an entry for this variant (Variation ID: 92165). Experimental studies have shown that this missense change creates a Slack channel protein that is not incorporated into the cell membrane (PMID: 28366665). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000077799 SCV000109633 pathogenic Early infantile epileptic encephalopathy 14 2014-01-01 no assertion criteria provided literature only

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