ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1769G>A (p.Arg590Gln)

gnomAD frequency: 0.00002  dbSNP: rs747930676
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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 RCV001580252 SCV001809895 uncertain significance Glanzmann thrombasthenia 2024-08-20 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1769G>A (p.Arg590Gln) has been reported in one patient with suspected type 3 GT (PMID: 29675921). 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. GT39 is compound heterozygous for Cys857Phe (classified as VUS b the PD VCEP; SCV001809850.1) and Arg590Gln. Based on the evidence available at this time, the variant is classified as uncertain significance. GT-specific criteria applied: PP4_moderate.

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