ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2330C>A (p.Ala777Asp)

dbSNP: rs2048543938
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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 RCV001290481 SCV001478519 uncertain significance Glanzmann thrombasthenia 2024-02-20 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.2330C>A (p.Ala777Asp) missense variant has been reported in at least two compound heterozygous GT probands (PMID: 29675921 and GT database 438). GT30 of PMID: 29675921 meets the criteria for PP4_Strong; including mucocutaneous bleeding, impaired aggregation with all agonists except ristocetin, and reduced surface expression of αIIbβ3 measured by flow cytometry. The variant is absent from all population database cohorts, including gnomADv4 (PM2_supporting). In summary this variant meets criteria to be classified as uncertain significance for GT. GT-specific criteria applied: PM2_Supporting and PP4_Strong.

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