Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144734 | SCV000190941 | pathogenic | not provided | 2013-09-19 | criteria provided, single submitter | clinical testing | The Asn71Asp missense mutation in the CDKL5 gene has been reported previously as a de novo mutation in a female with the early-onset seizure variant of Rett syndrome (Artuso et al., 2010). It is a non-conservative amino acid substitution of an uncharged Asparagine residue with a negatively charged Aspartic acid residue at a position that is conserved across species. The variant is found in EPILEPSY panel(s). |
Rett |
RCV000169981 | SCV000222286 | likely pathogenic | Atypical Rett syndrome | 2014-03-13 | no assertion criteria provided | curation | Highly conserved amino acid in catalytic domain; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0) |