Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418352 | SCV000533486 | likely pathogenic | not provided | 2016-11-11 | criteria provided, single submitter | clinical testing | The c.3462-10C>G variant in the EHMT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice acceptor site in intron 24, and is expected to cause abnormal gene splicing. The c.3462-10C>G 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.3462-10C>G as a likely pathogenic variant. |