Case: Patient 2 (Family A), female, 75yo

DiseaseAssertion: VWD2B

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0030129, HP:0030130, HP:0011871, HP:0012147

(impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Impaired RIPA, Reduced quantity of VWF)

CaseHPOFreeText: blood group A, Platelet count x103/μl = 322, PFA 100 sec = NA, SPA % = 10, MADR mg/mL = 0.6, VWF:Ag U/dL = 133, VWF:CB U/dL = 144.2, VWF:CB ratio = 1.1, VWF:RCo U/dL = 106, VWF:RCo ratio = 0.79, Platelet VWF U/dL = 129.5, FVIII U/dL = 126, BAT F/M = 3

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: NA

GenotypingMethod: Sequencing of exon 28 of VWF

PreviouslyPublished: NA

Gene: VWF

Variant: c.4115T>G (p.Ile1372Ser)

HGVS: NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser)

ClinVarID: 100327; https://www.ncbi.nlm.nih.gov/clinvar/variation/100327/

gnomAD: MAF = 0.00006175 (7/113356 alleles) in the European (non-Finnish) population; https://gnomad.broadinstitute.org/variant/12-6128469-A-C?dataset=gnomad_r2_1