Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479853 | SCV000567548 | pathogenic | not provided | 2015-08-06 | criteria provided, single submitter | clinical testing | The Y286X nonsense variant in the CDKL5 gene is predicted to cause loss of normal protein function eitherthrough protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating itis not a common benign variant in these populations. Although this variant has not been reported previouslyto our knowledge, we consider it to be pathogenic. |