ClinVar Miner

Submissions for variant NM_001206744.2(TPO):c.1472G>A (p.Arg491His)

gnomAD frequency: 0.00008  dbSNP: rs201165648
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238605 SCV000296946 uncertain significance not specified 2015-10-31 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV002243926 SCV002515281 uncertain significance Deficiency of iodide peroxidase 2022-02-01 criteria provided, single submitter clinical testing
GeneDx RCV002255143 SCV002526519 pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27525530, 27060741, 11415848)

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.