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    Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population
    2
    1. ClingenBaseline 23 Oct 2026
      93113−−10Fc.2435delC/c.5557C>Tp.P812RfsX31/p.R1853X18/3216/19PD/PD

      Case: Patient 9, F, Hungarian

      DiseaseAssertion: VWD type 3

      FamilyInfo: compatible with recessive inheritance

      ParentalGenotype(s): n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeRext: Bleeding score: 10, VWF:Ag (IU dL−1): 1, VWF:CB (IU dL−1): 1, FVIII:C (IU dL−1): 3, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels, bleeding episode severity increased after the menarche

      CaseNOTHPOs: n/a

      CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.2435delC (p.Pro812ArgfsX31), Exon 18

      c.5557C>T (p.Arg1853X), Exon 32

      Intron 40 VNTR: 16/19

      Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR

      DiseaseEntity:VWD3 Mutation:Frameshift Zygosity:CompoundHeterozygous Mutation:Nonsense CAID:CA114153 CAID:CA114143 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 22 Oct 2026
      183< 1< 13−−20Mc.1992insC/c.5557C>Tp.C665LfsX13/p.R1853X16/3215/16N/PD

      Case: Patient 18, M, Hungarian

      DiseaseAssertion: VWD type 3

      FamilyInfo: compatible with recessive inheritance

      ParentalGenotype(s): n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeRext: Bleeding score: 20, VWF:Ag (IU dL−1): < 1, VWF:CB (IU dL−1): < 1, FVIII:C (IU dL−1): 3, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels

      CaseNOTHPOs: n/a

      CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.1992insC (p.Cys665LeufsX13), Exon 16

      c.5557C>T (p.Arg1853X), Exon 32

      Intron 40 VNTR 15/16

      Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR

      DiseaseEntity:VWD3 Mutation:Frameshift Mutation:Nonsense Zygosity:CompoundHeterozygous CAID:CA2617232074 CAID:CA114143 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    sciencedirect.com/science/article/pii/S1538783622069197