ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) (rs1554771469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497817 SCV000589778 likely pathogenic not provided 2016-09-16 criteria provided, single submitter clinical testing The R262Q variant in the KCNT1 gene has been reported previously as a de novo variant in an individual with malignant migrating focal seizures of infancy (Moller et al., 2015). The R262Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R262Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties and occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The R262Q variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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