ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) (rs571757257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718717 SCV000849581 uncertain significance Seizures 2017-05-11 criteria provided, single submitter clinical testing The p.R613Q variant (also known as c.1838G>A), located in coding exon 18 of the KCNT1 gene, results from a G to A substitution at nucleotide position 1838. The arginine at codon 613 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001037669 SCV001201093 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-08-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 613 of the KCNT1 protein (p.Arg613Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs571757257, ExAC 0.02%). This variant has not been reported in the literature in individuals with KCNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 589059). 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: 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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