Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144751 | SCV000190964 | pathogenic | not provided | 2013-08-07 | criteria provided, single submitter | clinical testing | The Gln234Stop nonsense mutation in the CDKL5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, other nonsense mutations have been reported in the CDKL5 gene in association with epilepsy. The variant is found in EPILEPSY panel(s). |