IPType 1 VWDc.7464C>T11A1>3009635Normal multimer size distribution*
Case: Female, Caucasian, 11 years at diagnosis
DiseaseAssertion: VWD1
FamilyInfo: Non-consanguineous family, parents carry no bleeding history but have risk factors (prolonged closure time and modestly decreased VWF:Ag level)
ParentalGenotype(s): Mother has c.7464C>T, Father carries no mutation.
CasePresentingHPOs: HP:0000421, HP:0000978, HP:0001934, HP:0030140, HP:0004846, HP:0006298
CaseHPOFreeText: Cumulative bleeding score of 17, Reduced VWF:Ag of 9IU/dL, VWF:GPIb of 6 I/dL, and factor VIII coagulant activity of 35 IU/dL, prolonged PFA closure time of >300 and reduced concentration of all multimers.
CaseNOTHPOs: None reported
CaseNOTHPOFreeText: Normal multimer size distribution (tested in Agarose gel)
CasePreviousTesting: NA
GenotypingMethod: Direct sequencing of genomic DNA exons 1 to 52, exon/intron boundaries, 5' and 3' UTR, promoter region, and whole intron 44 of VWF. RT-PCR followed by sequencing of cDNA to detect splicing defect due to c.7464C>T.
PreviouslyPublished: PMID:22871923
Gene: VWF
Variant: c.7464C>T
HGVS: NM_000552.5:c.7464C>T (p.Gly2488=)
ClinVarID: 619755
CAID: CA232284628
gnomAD: 0.000008799 MAF in European (non-Finnish) and 0.000008664 MAF in XX. https://gnomad.broadinstitute.org/variant/12-6080849-G-A