Case#: 1, Male, Age 12, Caucasian (Proband), Blood type O

Disease Assertion: VWD2M

FamilyInfo: Mother with clinical symptoms (see case #2). 40 year old father and sister had no bleeding symptoms. Parents had a non-consanguineous relationship, Table 1

Parental Genotype: Heterozygous mother, normal father

CasePresentingHPOs: HP:0000421, HP:0000978, HP:0004846, HP:0000225

(Epistaxis, Bruising susceptibility, Prolonged bleeding after surgery, Gingival bleeding)

CaseHPOFreeText: Bleeding in the central nervous system, Epistaxis required tamponades, bleeding score 14, VWF:RCo: 9 IU/dL, VWF:Ag: 17 IU/dL, RCo/Ag: 0.53, Absence of response to DDAVP infusion

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

Protein Expression: N/A

CasePreviousTesting: Forward and reverse strands sequenced by automated sequencing technology, PCR techniques used to analyze exons 17, 26-31, and 52 of VWF gene

Gene: VWF

Variant: NM_000552.3:c.4276C>T (p.Arg1426Cys) and NM_000552.3:c.4944del (p.Ile1649Serfs?)

ClinVar: 100407 (for c.4944delT) ClinVarID website

CAID: CA6402561 and CA228684

CA6402561 CA228684

gnomAD: MAF of 0.00006152 (1/16254 alleles) in the African population for CA6402561. MAF of 0.00005440 (1/18384 alleles) in the East Asian population for CA228684.

gnomAD website1 gnomAD website2