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    L718P mutation in the membrane-proximal cytoplasmic tail of β3 promotes abnormal αIIbβ3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype
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    1. ClingenBaseline 23 Oct 2026
      The patient is a Caucasian 43-year old female

      Case1: Female, 43 years old, Caucasian

      DiseaseAssertion: Thrombasthenia

      FamilyInfo: Pedigree found in Fig. 2B

      ParentalGenotype: See Pedigree Fig 2B

      CasePresentingHPOs: HP:0000132 (Menorrhagia)

      CaseHPOFreeText: Severe and frequent mucocutaneous hemorrhages, intra-peritoneal bleeding

      CaseNotHPOs: N/A

      CaseNotHPOsFreeText: N/A

      ProteinExpression: 25% decrease of GPIbα and a reduced mean value of side scatter in the patient’s platelets.

      PlateletAggregation: Platelet aggregation was markedly reduced in response to ADP, epinephrine, collagen, and arachidonic acid but agglutination induced by ristocetin was normal

      CasePreviousTesting: Screening for mutations was carried out by direct sequencing of PCR-amplified overlapping fragments of reversed transcribed αIIb and β3 mRNA.

      Gene: ITGB3

      Variant: NM_000212.2:c.2231T>C (p.Leu744Pro)

      LegacyVariant: (p.Leu718Pro)

      ClinVar: 50229

      CAiD: CA143712

      gnomAD: N/A

      CaseInfo Individual Gene:ITGA2B Zygosity:Heterozygous InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense ClinVarID:50229 CAiD:CA143712 PreviousTesting:Full ParentalTesting:FullPhase PlateletAggregation:Reported ProteinExpression:Reported inferred_gene_hgnc:8803 inferred_gene_source:ClinVar ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC2895041/