Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory; Baylor College of Medicine | RCV000119825 | SCV000154751 | probable-pathogenic | Usher syndrome, type 2A | criteria provided, single submitter | not provided | Converted during submission to Likely pathogenic. | |
Gene |
RCV000444053 | SCV000515833 | pathogenic | not provided | 2015-03-24 | criteria provided, single submitter | clinical testing | The S2492X nonsense variant in the USH2A gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. S2492X was notobserved in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. Although thisvariant has not been reported previously to our knowledge, we consider it to be pathogenic. |