Case: P11, M/19

DiseaseAssertion: VWD1

FamilyInfo: No family history

ParentalGenotype: NA

CaseHPOFreeText: The bleeding score was 3, aPTT was 49 seconds, FVIII:C was 29%, VWF:RCo was 42 IU/dL, and VWF:Ag was 58 IU/dL, with a VWF:RCo/VWF:Ag ratio of 0.7. The VWF multimer pattern was normal, RIPA was not tested, and the platelet count was 234 × 10⁹/L.

CasePreviousTesting: NA

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

Gene: VWF

Variant: c.2289dupG, p.S764Efs*16 — heterozygous

HGVS: NM_000552.5(VWF):c.2289dup (p.Ser764GlufsTer16)

ClinVar:

CAID: CA2695215960

gnomAD: absent from gnomad v4.1.o