ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu) (rs1064794752)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484142 SCV000569874 likely pathogenic not provided 2016-04-01 criteria provided, single submitter clinical testing The P409L variant in the KCNT1 gene has not been reported previously as a pathogenic variant noras a benign variant, to our knowledge. The P409L variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The P409L variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. This substitution occurs at a position that is conserved acrossspecies. In silico analysis predicts this variant is probably damaging to the protein structure/function.Therefore, we interpret P409L as a likely pathogenic variant

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