Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413287 | SCV000490543 | pathogenic | not provided | 2015-07-16 | criteria provided, single submitter | clinical testing | The c.11122-2 A>G splice site variant in the GPR98 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The c.11122-2 A>G splice site substitution destroys the canonical splice acceptor site in intron 53. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.11122-2 A>G variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret c.1112-2 A>G to be a pathogenic variant. |