ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp)

gnomAD frequency: 0.00001  dbSNP: rs755348603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801526 SCV000941303 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2020-02-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with KCNT1-related disease. This variant is present in population databases (rs755348603, ExAC 0.005%). This sequence change replaces arginine with tryptophan at codon 71 of the KCNT1 protein (p.Arg71Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan.

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