Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481615 | SCV000565966 | pathogenic | not provided | 2015-03-17 | criteria provided, single submitter | clinical testing | The c.1007_1014delAGTCTCAC variant in the CDKL5 gene causes a frameshift starting with codonGlutamine 336, changes this amino acid to a Proline residue and creates a premature Stop codon at position 4of the new reading frame, denoted p.Gln336ProfsX4. This deletion is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we consider it to be pathogenic. |