ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058382 SCV001222948 pathogenic Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 346 of the KCNT1 protein (p.Phe346Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with early infantile epileptic encephalopathy (PMID: 29390993, 30868116, 29196579, Invitae). In at least one individual the variant was observed to be de novo. This variant has been reported to affect KCNT1 protein function (PMID: 29196579). For these reasons, this variant has been classified as Pathogenic.

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