ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter)

dbSNP: rs199422232
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.