ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) (rs776559951)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000381563 SCV000344483 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Invitae RCV000546728 SCV000652965 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-08-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 259 of the KCNT1 protein (p.Ala259Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs776559951, ExAC 0.01%). This variant has not been reported in the literature in individuals with KCNT1-related disease. ClinVar contains an entry for this variant (Variation ID: 290007). 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: "Benign"; 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.

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