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    Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L
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    1. ClingenBaseline 24 Oct 2026
      The VWF:Ag level was 38 IU/dL in the patient with the p.M771I variation and FVIII:C, VWF:RCo and VWF:CB levels were proportionally decreased in this patient (20 IU/dL, 59 IU/dL and 49 IU/dL, respectively)

      Case: M771I heterozygous

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: FVIII:C = 20 IU/dL, VWF:RCo = 59 IU/dL, VWF:Ag = 38 IU/dL, VWF:CB = 49 IU/dL, VWF:RCo/VWF:Ag = 1.55

      CaseNOTHPOs: HP:0030132

      (Absence of large von Willebrand factor multimers)

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NA

      PreviouslyPublished: PMID: 16985174

      Gene: VWF

      Variant: c.2313G>T (p.Met771Ile)

      HGVS: NM_000552.4(VWF):c.2313G>T (p.Met771Ile)

      ClinVarID: 100211; https://www.ncbi.nlm.nih.gov/clinvar/variation/100211/

      CAID:

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:Heterozygous ClinVarID:100211 PreviouslyPublished inferred_gene_hgnc:3097 inferred_gene_source:ClinVar ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5649964/