ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) (rs373041291)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727041 SCV000705105 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000592097 SCV000726315 likely benign not specified 2018-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000544735 SCV000652945 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2018-02-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1094 of the KCNT1 protein (p.Thr1094Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs373041291, ExAC 0.05%). This variant has not been reported in the literature in individuals with 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: "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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