Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000236881 | SCV000292863 | pathogenic | not provided | 2015-05-21 | criteria provided, single submitter | clinical testing | The c.1707+6_1707+9delTAAG variant in the ATP7A gene has not been reported previously as a disease-causing variant nor as a benign polymorphism, to our knowledge. This variant reduces the quality of the splice donor site in intron 6, and is expected to cause abnormal gene splicing. The c.1707+6_1707+9delTAAG variant 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 common benign variant in these populations. We interpret c.1707+6_1707+9delTAAG as a disease-causing variant |