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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The β3 subunit of the integrin αIIbβ3 regulates αIIb-mediated outside-in signaling
    1
    1. ClingenBaseline 26 Oct 2026
      The patient

      Case1: The proband of interest is designated as VGTΔ724 in this article

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: N/A

      CasePresentingHPOs: HP:0000978, HP:0000967

      (Bruising, petechiae)

      CaseHPOFreeText: Mucosal bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: N/A

      PlateletAggregation: Platelets fail to aggregate in response to physiologic agonists or spread on fibrinogen

      CasePreviousTesting: N/A

      Gene: ITGB3

      Variant: NM_000212.2:c.2248C>T (p.Arg750Ter) and NM_000212.2:c.1791del (p.Asn597Lysfs*72)

      LegacyVariant: (p.Arg724Ter)

      ClinVar: 13564 (p.Arg750Ter)

      CAiD: CA123246 (p.Arg750Ter) and CA8623358 (Asn597Lysfs*72)

      gnomAD: MAF in the African population is 0.0006008 https://gnomad.broadinstitute.org/variant/17-45384950-C-T (p.Arg750Ter)

      CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:SingleNucleotideDeletion ProteinExpression:NotReported PlateletAggregation:Reported Mutation:Nonsense ClinVarID:13564 CAiD:CA123246 Mutation:Frameshift CAiD:CA8623358 Zygosity:CompoundHeterozygous inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC1895035/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex.
    1
    1. ClingenBaseline 26 Oct 2026
      RM

      Case1: (Patient RM) Male, age and ethnicity not specified

      DiseaseAssertion: Glanzmann thrombasthenia

      FamilyInfo: N/A

      ParentalGenotype: Mother: heterozygous for (p.Arg724Ter)

      CasePresentingHPOs:

      CaseHPOFreeText: HP:0000978 (Easy bruising)

      CaseNotHPOs: Recurrent mucosal bleeding

      CaseNotHPOFreeText: N/A

      ProteinExpression: Flow cytrometric analysis revealed reduced levels of alphaIIbbeta3 on the surface of RM platelets (See Fig 1B)

      PlateletAggregation: Ristocetin induced agglutination was normal; however, platelets failed to aggregate in response to all physiological agonists including ADP, collagen, epinephrine, thrombin, and arachidonic acid

      CasePreviousTesting: Direct DNA sequence analysis of PCR amplified ITGA2B and ITGB3 genes from patient RM's genomic DNA was performed. All exons, including the immediate intron-exon junctions of ITGA2B and ITGB3 were amplified using the PCR primer pairs originating in the intron sequence flanking each exon. The resulting PCR fragments were purified and subjected to direct cycle sequencing

      Gene: ITGB3

      Variant: NM_000212.2:c.2248C>T (p.Arg750Ter) and NM_000212.2:c.1791del (p.Asn597Lysfs*72)

      LegacyVariant: (p.Arg724Ter)

      ClinVar: 13564

      CAiD: CA123246 and CA8623358

      gnomAD: MAF in the African population is 0.0006008 https://gnomad.broadinstitute.org/variant/17-45384950-C-T

      PreviouslyPublished: PMID: 15701721

      CaseInfo Individual Gene:ITGB3 InheritancePattern:AutosomalRecessive DiseaseEntity:GlanzmannThrombasthenia Mutation:Nonsense Mutation:SingleNucleotideDeletion Zygosity:Heterozygous CAiD:CA8623358 CAiD:CA123246 ClinVarID:13564 PreviousTesting:Full ParentalTesting:PartialPhase ProteinExpression:Reported PlateletAggregation:Reported PreviouslyPublished inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC508438/pdf/1002393.pdf