ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.527C>A (p.Pro176His)

gnomAD frequency: 0.00001  dbSNP: rs148327798
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001225246 SCV001397498 likely pathogenic Glanzmann thrombasthenia 2021-03-05 reviewed by expert panel curation The NM_000419.4:c.527C>A (p.Pro176His) missense variant was identified from an individual in The National Heart, Lung and Blood Institute Exome Sequencing Project (ESP) whose full genotype and phenotype were not reported. It occurs at an extremely low frequency of 0.000008248 in the African population of gnomAD. It is predicted to have a deleterious effect (REVEL score of 0.913) which was confirmed by functional studies showing virtually no mature GPIIb protein in transfected HEK293 cells (PMID: 25827233). This variant occurs at the same residue as the pathogenic variant Pro176Ala. In summary, this variant meets criteria to be classified as Likely Pathogenic for GT. GT specific criteria used: PS3_moderate, PM2_Supporting, PM5, PP3.

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.