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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
      patient with the p.L881R variation was also a compound heterozygote for the p.N1421K mutation

      Case: L881R/N1421K heterozygous proband

      DiseaseAssertion: VWD1

      FamilyInfo: NA

      ParentalGenotype(s): NA

      CasePresentingHPOs: HP:0012147

      (Reduced quantity of VWF)

      CaseHPOFreeText: FVIII:C = 30 IU/dL, VWF:RCo = 3 IU/dL, VWF:Ag = 27 IU/dL, VWF:CB = 22 IU/dL, VWF:RCo/VWF:Ag = 0.11

      CaseNOTHPOs: HP:0030132

      (Absence of large von Willebrand factor multimers)

      CaseNOTHPOFreeText:

      CasePreviousTesting: NA

      GenotypingMethod: NA

      PreviouslyPublished: PMID: 16985174

      Gene: VWF

      Variant 1: c.2642T>G (p.Leu881Arg)

      HGVS: NM_000552.5:c.2642T>G

      ClinVarID: NA

      CAID: CA383520052; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383520052

      gnomAD: absent

      Variant 2: c.4263C>G (p.Asn1421Lys)

      HGVS: NM_000552.4(VWF):c.4263C>G (p.Asn1421Lys)

      ClinVarID: 100345; https://www.ncbi.nlm.nih.gov/clinvar/variation/100345/

      gnomAD: absent

      Individual CaseInfo Gene:VWF InheritancePattern:AutosomalDominant DiseaseEntity:VWD1 Mutation:Missense Zygosity:CompoundHeterozygous CAid:CA383520052 ClinVarID:100345 PreviouslyPublished inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC5649964/