ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp)

gnomAD frequency: 0.00001  dbSNP: rs2048591163
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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 RCV001254664 SCV001809904 likely pathogenic Glanzmann thrombasthenia 2022-08-05 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) variant has been reported, in the homozygous state, in at least one GT proband (P3 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 databases, including gnomAD and is predicted deleterious (REVEL score 0.812). In summary, this variant meets criteria to be classified as Likely Pathogenic for GT. GT-specific criteria applied: PM2_supporting, PM3_supporting, PP4_strong and PP3.
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine RCV001254664 SCV001430683 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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