Case: P8, M/32

DiseaseAssertion: VWD1

FamilyInfo: Positive family history, no details provided.

ParentalGenotype: NA

CaseHPOFreeText: The bleeding score was 7, aPTT was 39 seconds, FVIII:C was 10%, VWF:RCo was 14 IU/dL, and VWF:Ag was 13 IU/dL, resulting in a VWF:RCo/VWF:Ag ratio of 1.1. The VWF multimer pattern showed a mild loss of high molecular weight multimers, RIPA was not tested, and the platelet count was 286 × 10⁹/L.

CasePreviousTesting: NA

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

Gene: VWF

Variant: c.2665T>C, p.C889R — heterozygous

HGVS: NM_000552.5(VWF):c.2665T>C (p.Cys889Arg)

ClinVar:

CAID: CA383519992

gnomAD: absent from gnomad v4.1.0