ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) (rs532620254)

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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 RCV000175356 SCV000226829 uncertain significance not provided 2014-09-08 criteria provided, single submitter clinical testing
Invitae RCV000529124 SCV000652921 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-01-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 643 of the KCNT1 protein (p.Arg643Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs532620254, ExAC 0.05%) but has not been reported in the literature in individuals with a KCNT1-related disease. ClinVar contains an entry for this variant (Variation ID: 194883). 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, 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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