Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482053 | SCV000567609 | pathogenic | not provided | 2015-08-06 | criteria provided, single submitter | clinical testing | The R428X variant in the CNKSR2 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The R428X variant wasnot observed in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretR428X as a pathogenic variant. |
Molecular Genetics Laboratory, |
RCV000482053 | SCV000803682 | likely pathogenic | not provided | 2017-07-10 | no assertion criteria provided | clinical testing |