Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002460890 | SCV002757254 | likely pathogenic | not provided | 2022-11-17 | criteria provided, single submitter | clinical testing | Identified as a somatic variant in a female patient with paroxysmal nocturnal hemoglobinuria in the published literature (Savoia et al., 1996); Has not been previously published as pathogenic or benign variant in the germline, to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 8557259) |
OMIM | RCV001799595 | SCV000030862 | pathogenic | Paroxysmal nocturnal hemoglobinuria | 1999-04-27 | no assertion criteria provided | literature only |