ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2688G>C (p.Met896Ile) (rs797044544)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425537 SCV000517457 pathogenic not provided 2015-06-10 criteria provided, single submitter clinical testing The c.2688 G>C (M896I) variant in the KCNT1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.2688 G>C (M896I) variant wasnot observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. The M896Isubstitution is a conservative amino acid substitution, which is not likely to impact secondary protein structureas these residues share similar properties. However, this substitution occurs at a position that is conservedacross species and in silico analysis predicts this variant is probably damaging to the proteinstructure/function. In addition, a different nucleotide change at the same residue (c.2688 G>A; p.M896I)has been reported as a de novo change in an individual with nocturnal frontal lobe epilepsy and psychiatricproblems (Heron et al., 2012), supporting the functional importance of this region of the protein. Weinterpret M896I as a pathogenic variant.

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