ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) (rs1171803758)

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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 RCV000720497 SCV000851374 uncertain significance Seizures 2016-12-22 criteria provided, single submitter clinical testing The p.V1196I variant (also known as c.3586G>A), located in coding exon 30 of the KCNT1 gene, results from a G to A substitution at nucleotide position 3586. The valine at codon 1196 is replaced by isoleucine, 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 variant remains unclear.
Invitae RCV001312344 SCV001502792 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-08-06 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1196 of the KCNT1 protein (p.Val1196Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 589977). 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: Tolerated; PolyPhen-2: Possibly Damaging; 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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