Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481951 | SCV000566710 | pathogenic | not provided | 2015-06-05 | criteria provided, single submitter | clinical testing | The c.4457delC deletion in the NOTCH2 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.4457delC deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4457delC deletion was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. We interpret c.4457delC as a pathogenic variant. |