ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1622T>A (p.Leu541Gln)

dbSNP: rs1598379635
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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 RCV001803411 SCV002047561 uncertain significance Glanzmann thrombasthenia 2021-11-04 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1622T>A (p.Leu541Gln) missense variant has been reported at least once, GT19 (PMID: 32237906) displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia (PP4_moderate). Additionally, αIIb surface expression was reduced to 0.371%, as measured by flow cytometry. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as uncertain significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PP4_moderate, PM2_supporitng. (VCEP specifications version 2; date of approval 11/04/2021)

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