Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144788 | SCV000191012 | pathogenic | not provided | 2012-11-14 | criteria provided, single submitter | clinical testing | The c.1886_1887insTT (aka c.1885_1886dupTT) mutation in the CDKL5 gene causes a frameshift starting with codon Leucine 629, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu629PhefsX2. 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 INFANT-EPI panel(s). |