Case: P15, M/45

DiseaseAssertion: VWD1

FamilyInfo: Positive family history, no details provided.

ParentalGenotype: NA

CaseHPOFreeText: The bleeding score was 11, aPTT was 59 seconds, FVIII:C was 3%, VWF:RCo was 11 IU/dL, and VWF:Ag was 6 IU/dL, with a VWF:RCo/VWF:Ag ratio of 1.8. The VWF multimer pattern was normal, RIPA was 2 ohms, and the platelet count was 378 × 10⁹/L.

CasePreviousTesting: NA

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

Gene: VWF

Variant: c.2574C>G, p.C858W — heterozygous

HGVS: NM_000552.5(VWF):c.2574C>G (p.Cys858Trp)

ClinVar:

CAID: CA232299278

gnomAD: https://gnomad.broadinstitute.org/variant/chr12-6034799-G-C?dataset=gnomad_r4