ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) (rs137852908)

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
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV000003030 SCV001397515 likely pathogenic Glanzmann thrombasthenia 2020-06-15 reviewed by expert panel curation The c.1073G>A (p.Arg358His) variant has been reported, in the homozygous state, in at least four probands (PMIDs: 8883261, 25728920, 19691478, 7706461) and once in a compound heterozygous case (PMID: 21557682), several of whom meet all diagnostic criteria for a phenotype highly specific to GT. This variant is absent from ExAC and gnomAD. Flow cytometric studies of the mutant protein expressed in CHO cells showed <10% expression of the GPIIb/IIIa complex on the cell surface (PMID: 8883261). In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PM2_supporting, PM3, PP3, PP4_moderate, and PS3_moderate.
OMIM RCV000003030 SCV000023188 pathogenic Glanzmann thrombasthenia 2021-04-13 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.