ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1022C>T (p.Ala341Val)

dbSNP: rs2048616805
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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 RCV001290495 SCV001478534 uncertain significance Glanzmann thrombasthenia 2023-12-19 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1022C>T (p.Ala341Val) missense variant has been reported in at least one compound heterozygous GT proband (GT database patient 437). Patient 437 meets the criteria for PP4_Moderate; including mucocutaneous bleeding, impaired aggregation with all agonists except ristocetin. Additionally, flow cytometry confirmed that her platelets expressed <10% αIIbβ3.The variant is absent from a population databases including gnomADv2.1.1 (PM2_supporting). Computational evidence supports a deleterious effect with a REVEL score of 0.764 (PP3). In summary there is insufficient evidence at this time to classify this variant for autosomal recessive Glanzmann thrombasthenia. GT-specific criteria applied: PM2_Supporting, PP3, and PP4_Moderate.

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