ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln)

dbSNP: rs2048524687
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 RCV001225228 SCV001397474 likely pathogenic Glanzmann thrombasthenia 2023-09-07 reviewed by expert panel curation The missense variant NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln) has been reported in one compound heterozygous proband (PMID: 25728920) with the Pathogenic variant c.1440-13_1440-1del (PM3_supporting). The patient meets the criteria for PP4_strong, including mucocutaneous bleeding, impaired aggregation with all agonists except ristocetin, and 5% surface expression of αIIbβ3 measured by flow cytometry. It is absent from population databases, including gnomADv2.1.1 (PM2_supporting) and multiple lines of computational evidence support a deleterious effect with a REVEL score of 0.843 (PP3). In summary, this variant meets criteria to be classified as uncertain significance for autosomal recessive Glanzmann thrombasthenia. GT-specific criteria applied: PM2_supporting, PP3, PM3_supporting, PP4_strong.

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.