Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427988 | SCV000524585 | likely pathogenic | not provided | 2016-04-07 | criteria provided, single submitter | clinical testing | The Y984X variant in the NRXN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y984X variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y984X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |