ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile)

dbSNP: rs2143481657
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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 RCV001580226 SCV001809860 likely pathogenic Glanzmann thrombasthenia 2024-05-02 reviewed by expert panel curation The missense variant NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile) is absent from gnomADv4.o (PM2_supporting). It is reported in one compound heterozygous individual (PMID: 25373348) with c.2602-3C>A and c.2602-2A>G (classified Likely Pathogenic by the PD-VCEP; SCV001809877.2) and one homozygous individual (PMID: 31029159; PM3_supporting). GT16 of PMID: 25373348 meets bleeding phenotype, aggregometry criteria, and integrin expression is reported to be <5% reduced by flow cytometry, and all exons of ITGA2B and ITGB3 genes as well as surrounding intron regions were sequenced. (PP4_Strong). In summary, this variant meets criteria to be classified as Likely Pathogenic for GT. GT-specific criteria applied: PP4_Strong, PM2_Supporting, PM3_Supporting.

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