ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.419A>G (p.Asn140Ser) (rs1057524663)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417862 SCV000536194 pathogenic not provided 2017-02-03 criteria provided, single submitter clinical testing The N140S variant in the CDKL5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N140S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N140S variant is a conservative amino acid substitution, which occurs at a position in a catalytic domain that is conserved across species. In addition, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret N140S as a pathogenic variant.

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