ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His)

dbSNP: rs762025166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528578 SCV000652958 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2017-01-26 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 1203 of the KCNT1 protein (p.Pro1203His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. This variant is present in population databases (rs762025166, ExAC 0.005%) but has not been reported in the literature in individuals with a KCNT1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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