ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.1281G>A (p.Trp427Ter)

gnomAD frequency: 0.00001  dbSNP: rs782552484
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 RCV001823188 SCV002072722 pathogenic not provided 2022-01-31 criteria provided, single submitter clinical testing 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; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34556655)
Shieh Lab, University of California, San Francisco RCV001376117 SCV001441633 pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 2020-10-19 no assertion criteria provided research

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.