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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
    1
    1. ClingenBaseline 23 Oct 2026
      P17

      Case: P17, F/30

      DiseaseAssertion: VWD2A

      FamilyInfo: No family history

      ParentalGenotype: NA

      CaseHPOFreeText: The bleeding score was 8, aPTT was 42 seconds, FVIII:C was 23%, VWF:RCo was 20 IU/dL, and VWF:Ag was 11 IU/dL, with a VWF:RCo/VWF:Ag ratio of 1.8. The VWF multimer pattern showed a loss of intermediate and high molecular weight multimers, RIPA was not tested, and the platelet count was 276 × 10⁹/L.

      CasePreviousTesting: NA

      GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.

      Gene: VWF

      Variant: c.3814T>C, p.C1272R — heterozygous

      HGVS: NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg)

      ClinVar: 301

      CAID: CA114149

      gnomAD: absent from gnomad v4.1.0

      InheritancePattern:AutosomalDominant DiseaseEntity:VWD2A Mutation:Missense Zygosity:Heterozygous CAID: CA114149 ClinVar: 301 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    pmc.ncbi.nlm.nih.gov/articles/PMC6660331/