ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp)

dbSNP: rs2143480810
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001580263 SCV001809926 likely pathogenic Glanzmann thrombasthenia 2023-11-02 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp) missense variant is absent from large population databases, including gnomADv2.1.1 (PM2_supporting). This variant has been reported in the homozygous state (PM3_supporting) in at least one proband who meets criteria for the GT phenotype, which includes history of significant mucocutaneous bleeding, absent platelet aggregation with three physiological agonists, normal with ristocetin. Flow cytometry demonstrated reduced (<5%) αIIbβ3 surface expression (PMID: 25728920; PP4_strong). The variant segregated with disease in two homozygous siblings (PMID: 36672149; PP1). In silico tools (REVEL score = 0.825) predict deleterious effects on gene function (PP3). In summary, this variant meets criteria for PP4_strong, PM2_supporting, PP3, PP1 and PM3_supporting; and is therefore classified as Likely Pathogenic for GT.

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