Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003319302 | SCV004023908 | uncertain significance | not provided | 2023-02-06 | criteria provided, single submitter | clinical testing | Observed in patients with prion disease in published literature (Tunnell et al., 2008; Corbie et al., 2022); Published functional studies were inconclusive regarding glycosylation and membrane trafficking (Tunnell et al., 2008); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23467330, 20875062, 24851016, 20938044, 20216075, 31340582, 30877692, 28778873, 18955686, 35754056, 30109268, 26645475, 32560489) |
OMIM | RCV000014357 | SCV000034606 | pathogenic | Gerstmann-Straussler-Scheinker syndrome | 2008-10-28 | no assertion criteria provided | literature only |