Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493071 | SCV000582463 | pathogenic | not provided | 2015-09-08 | criteria provided, single submitter | clinical testing | The E199X nonsense variant in the PCDH19 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although the E199X variant has not been reported previously to our knowledge, many other nonsense variants have been reported in association with PCDH19-related disorders (Stenson et al., 2014). Therefore, the E199X variant is interpreted as pathogenic. |