Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144832 | SCV000191069 | pathogenic | not provided | 2012-03-12 | criteria provided, single submitter | clinical testing | The c.1944+2 T>G splice site mutation in the CDKL5 gene destroys the canonical splice donor site in intron 12. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this mutation has not been previously reported to our knowledge, its presence is consistent with the diagnosis of a CDKL5-related disorder. The variant is found in EPILEPSY panel(s). |