Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144837 | SCV000191077 | pathogenic | not provided | 2014-06-10 | criteria provided, single submitter | clinical testing | The Q891X 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. The variant is found in INFANT-EPI panel(s). |