ClinVar Miner

Submissions for variant NM_000311.5(PRNP):c.313C>T (p.Pro105Ser)

dbSNP: rs74315414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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