Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196241 | SCV000251595 | likely pathogenic | not provided | 2018-01-31 | criteria provided, single submitter | clinical testing | The R192X variant in the GYS2 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 R192X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R192X as a likely pathogenic variant. |
Fulgent Genetics, |
RCV000763305 | SCV000893972 | pathogenic | Glycogen storage disease due to hepatic glycogen synthase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing |