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.