Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144784 | SCV000191008 | pathogenic | not provided | 2012-12-07 | criteria provided, single submitter | clinical testing | The c.1345_1363del19 mutation in the CDKL5 gene causes a frameshift starting with codon Glutamic acid 449, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 38 of the new reading frame, denoted p.Glu449LeufsX38. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, many other frameshift mutations in CDKL5 have been published. The variant is found in EPILEPSY panel(s). |