ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2570G>T (p.Cys857Phe)

dbSNP: rs1242785708
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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 RCV001580217 SCV001809850 uncertain significance Glanzmann thrombasthenia 2024-06-06 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.2570G>T (p.Cys857Phe) missense variant is absent from gnomAD v4.0 (PM2_Supporting). It has been reported in two patients with GT (PMID: 29675921, Patient 439 of the Glanzmann Thrombasthenia Database), both compound heterozygous with variants of uncertain significance. GT39 of PMID: 29675921 meets the criteria for PP4_moderate; including mucocutaneous bleeding, and impaired aggregation with all agonists except ristocetin. There was reduced function of αIIbβ3 measured by flow cytometry, however 43% PAC-1 binding was not considered sufficient to meet PP4_strong. In summary, based on the evidence available at this time, the variant is classified as uncertain significance for GT. GT-specific criteria applied: PM2_supporting and PP4_moderate.

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