Case: Moreno-Castano_2021_Case_1, female, age 21 at time of study

DiseaseAssertion: VWD2A

FamilyInfo: The phenotypes of the affected propositus, the two unaffected parents, and the unaffected sibling are documented in Table I and Figure 1, while the family relationsihps and genotypes are not shown but described.

ParentalGenotype(s): The parental genotypes are negative for the variant, indicating that the variant is likely de novo in the proband.

CasePresentingHPOs: HP:0030129 (Impaired ristocetin cofactor assay activity), HP:0011871 (Impaired ristocetin-induced platelet aggregation), HP:0040225 (Decrease in high molecular weight von Willebrand factor Multimers), HP:0000978 (Bruising susceptibility), HP:0000421 (Epistaxis)

CaseHPOFreeText: Low VWF:RCo/VWF:Ag ratio

CaseNOTHPOs: HP:0030976 (Abnormal factor VIII activity)

CaseNOTHPOFreeText: Normal / slightly higher VWF antigen level

CasePreviousTesting: Because of the detailed clinical phenotype, genotyping was limited to the VWF locus alone.

GenotypingMethod: Genotyping consisted of PCR amplification and Sanger sequencing of the 52 exons of the VWF gene, as well as linkage analysis using four STRs located within the VWF locus.

PreviouslyPublished: The case appears to have been first published in PMID: 28971901.

Gene: VWF

Variant: NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser)

ClinVarID: 100503

gnomAD: This variant is absent from gnomAD v2.1.1 and v3.1.2.

Case: Tjenberg_2006_Patient_III-5, female, blood type O

DiseaseAssertion: VWD2A

FamilyInfo: The phenotypes of the 3 affected family members and 3 unaffected family members are documented in Table I, while the pedigree and genotypes are shown in Figure IA.

ParentalGenotype(s): The parental genotype is unknown, but the affected daughter of the proband has inherited the variant.

CasePresentingHPOs: HP:0003010 (Prolonged bleeding time), HP:0030129 (Impaired ristocetin cofactor assay activity), HP:0000978 (Bruising susceptibility), HP:0004406 (Spontaneous, recurrent epistaxis), HP:0000132 (Menorrhagia), HP:0040225 (Decrease in high molecular weight von Willebrand factor Multimers)

CaseHPOFreeText: bleeding time > 15 minutes, bleeding score of 10, aberrant odd-numbered VWF multimers observed between the normal multimers

CaseNOTHPOs: HP:0030976 (Abnormal factor VIII activity)

CaseNOTHPOFreeText: Normal VWF antigen level

CasePreviousTesting: Because of the detailed clinical phenotype, genotyping was limited to the VWF locus alone.

GenotypingMethod: Genotyping consisted of PCR amplification and Sanger sequencing of exons 51 and 52 of the VWF gene.

PreviouslyPublished: N/A

Gene: VWF

Variant: NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser)

ClinVarID: 100503

gnomAD: This variant is absent from gnomAD v2.1.1 and v3.1.2.