Case: P1, M/5

DiseaseAssertion: VWD1

FamilyInfo: No

ParentalGenotype: NA

CaseHPOFreeText: The bleeding score was 0, aPTT was 41 seconds, FVIII:C was 60%, VWF:RCo was 22 IU/dL, and VWF:Ag was 27 IU/dL, resulting in a VWF:RCo/VWF:Ag ratio of 0.8. RIPA was nearly absent, VWF multimer analysis was not tested, and the platelet count was 250 × 10⁹/L.

CasePreviousTesting: NA

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

Gene: VWF

Variant: c.6579G>C, p.W2193C — heterozygous

HGVS: NM_000552.5(VWF):c.6579G>C (p.Trp2193Cys)

ClinVar:

CAID: CA383490665

gnomAD: absent from gnomad v4.1.0