Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |