ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys)

dbSNP: rs2048541187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001254666 SCV001809909 likely pathogenic Glanzmann thrombasthenia 2022-08-05 reviewed by expert panel curation The missense variant NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) has been reported, in the homozygous state (PM3_supporting), in at least one GT proband (P15 in PMID: 34275420) who displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia. Additionally, αIIbβ3 surface expression was reduced to <5%, as measured by flow cytometry (PP4_strong). The variant is absent from population cohorts, including gnomAD. In summary, this variant meets criteria to be classified as Likely Pathogenic for GT. GT-specific criteria applied: PM2_supporting, PM3_supporting, PP4_strong.
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine RCV001254666 SCV001430686 pathogenic Glanzmann thrombasthenia criteria provided, single submitter provider interpretation The variant impairs the expression of the platelets fibrinogen receptor alphaIIb beta3

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