ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn)

dbSNP: rs1196551352
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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 RCV002254793 SCV002525882 likely pathogenic Glanzmann thrombasthenia 2022-04-19 reviewed by expert panel curation The missense variant NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn) has been reported in at least one patient (PMID: 17488698) with mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia. Additionally, alphaIIbbeta3 surface expression was reduced to 4.5%, as measured by flow cytometry (PP4_strong). The patient is compound heterozygous for in trans variants c.1771dup (classified Pathogenic by the PD-EP) and His813Asn (PM3). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary this variant meets criteria to be classified as Likely Pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PP4_strong, PM2_supporting, PM3 (VCEP specifications version 2.1).

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