ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2677G>A (p.Glu893Lys) (rs1554778082)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498738 SCV000589834 likely pathogenic not provided 2017-04-10 criteria provided, single submitter clinical testing The E893K variant in the KCNT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E893K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E893K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E893K as a likely pathogenic variant, which may be related to the reported epileptic encephalopathy in this individual.

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