Total submissions: 4
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 disorder due to hepatic glycogen synthase deficiency | 2022-01-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000763305 | SCV002177839 | pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency | 2022-07-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg192*) in the GYS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GYS2 are known to be pathogenic (PMID: 9691087). This variant is present in population databases (rs150382575, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with GYS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 214530). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000763305 | SCV003830370 | likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency | 2022-03-11 | criteria provided, single submitter | clinical testing |