ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2226G>C (p.Glu742Asp) (rs754932579)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720872 SCV000851756 uncertain significance Seizures 2017-05-03 criteria provided, single submitter clinical testing The p.E742D variant (also known as c.2226G>C), located in coding exon 19 of the KCNT1 gene, results from a G to C substitution at nucleotide position 2226. The glutamic acid at codon 742 is replaced by aspartic acid, 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.

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