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  2. www.sciencedirect.com www.sciencedirect.com
    Type 2M von Willebrand Disease: F606I and I662F Mutations in the Glycoprotein Ib Binding Domain Selectively Impair Ristocetin- but not Botrocetin-Mediated Binding of von Willebrand Factor to Platelets
    1
    1. ClingenBaseline 23 Oct 2026
      In Family A, a single T → A missense mutation at nt 4105 was detected for both patient AII-1 and patient AIII-1, resulting in the substitution of Ile for Phe606 (F606I, Fig3A). The normal allele was also identified in both of these patients. These patients were also heterozygous for a commonly occurring A/G polymorphism at nt 4141,40 and a T/C polymorphism at nt 4641,40with the 4141A and the 4641T polymorphisms occurring in association with the missense mutation (data not shown).

      FamilyLabel: Hillery_1998_Family_A

      FamilyPresentingHPOs: HP:0030129 (Impaired ristocetin cofactor assay activity)

      FamilyPresentingHPOFreeText: Decreased ratio of vWFR:Co / VWF:Ag, decreased AVW-1 and AVW-3 antibody bound to VWF.

      FamilyNotHPOs: HP:0030131 (Abnormal von Willebrand factor multimer distribution), HP:0030130 (Impaired von Willibrand factor collagen binding activity)

      Case Family FamilyInfo Gene:VWF HGNC:12726 ClinVarID:100326 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    sciencedirect.com/science/article/pii/S0006497120571334
  3. www.thieme-connect.com www.thieme-connect.com
    10.1055/a-2616-5161
    1
    1. ClingenBaseline 22 Oct 2026
      8 c.4105T > A p.Phe1369Ile 28 A1 htz Missense na 30 16 61 CSA 43

      Case: IP #8 in type 2M VWD sub-cohort

      DiseaseAssertion: type 2M VWD

      FamilyInfo:

      ParentalGenotype(s):

      CasePresentingHPOs:

      CaseHPOFreeRext: VWF:Ag [IU/dL] = 30; VWF:Ac [IU/dL] = 16; FVIII:C [IU/dL] = 61; VWF:CB (IU/dL) = 43

      CaseNOTHPOs:

      CaseNOTHPOFreeText:

      CasePreviousTesting:

      GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

      PreviouslyPublished:

      Gene: VWF

      Variant: c.4105T>A p.Phe1369Ile

      HGVS:

      ClinVarID: 100326

      CAID:

      gnomAD: 0.000006197 (10 in 1613726) no homozygotes https://gnomad.broadinstitute.org/variant/12-6019313-A-T?dataset=gnomad_r4

      ClinVarID:100326 Mutation:Missense Zygosity:Heterozygous InheritancePattern:NoInheritanceAssertion DiseaseEntity:VWD2M inferred_gene_hgnc:2928 inferred_gene_source:ClinVar ClinGen VWF
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    thieme-connect.com/products/ejournals/pdf/10.1055/a-2616-5161.pdf