Case#: Elayaperumal_2018_V-281, M, 2 y.o. (onset), origin in India

DiseaseAssertion: VWD type 3

FamilyInfo: Consanguinity, no family history of bleeding

ParentalGenotype: not reported

CasePresentingHPOs:

CaseHPOFreeText: bleeding score of 9, VWF:Ag of 0, FVIII:C of 3.5%

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: not reported

GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.

Gene: VWF

Variant: homozygous c.4696C>T (p.Arg1566*)

HGVS: NM_000552.3:c.4696C>T

ClinVarID: 100382

CAID: CA228639

gnomAD: MAF of 0.00001762 (2/113480 alleles, European non-Finnish) https://gnomad.broadinstitute.org/variant/12-6127888-G-A

MultipleGeneVariants: n/a

Case#: Patient A, Female, Age 23, Chinese

Disease Assertion: VWD3

FamilyInfo: Family pedigree in figure 1(a). Consanguineous marriage between parents. Parents had a boy who died (1 year old) due to heavy nose bleeds. Parents were heterozygous carriers for the variant.

Parental Genotype: Both parents were heterozygous

CasePresentingHPOs: HP:0000132, HP:0003645, HP:0008151

(Menorrhagia, Prolonged partial thromboplastin time, Prolonged prothrombin time)

CaseHPOFreeText: Scalp hematoma, FVIII:C: 1.3%, VWF:Ag: 3.6%, VWF:RCo: <1.0%, PT: 15.9 s, APTT: 62.7 s

CaseNotHPOs: N/A

CaseNotHPOFreeText: TT: 14.9 s

Protein Expression: N/A

CasePreviousTesting: NGS targeting all exons and covered F8,F9, and VWF genes; and Sanger Sequencing

Gene: VWF

Variant: NM_000552.4(VWF):c.4696C>T (p.Arg1566Ter)

ClinVar:100382 ClinVarID

CAID: CA228639

CAID

gnomAD: MAF of 0.00001762 (2/113480 alleles) in the European (Non- Finnish) population.

gnomAD