Case: 3 (Also in row 1 table 6)

DiseaseAssertion: type 2A VWD

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeRext: VWF:Ag [IU/dL] = n/a; VWF:Ac [IU/dL] = 17; FVIII:C [IU/dL] = 15

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.

PreviouslyPublished:

Gene: VWF

Variant: c.1324C>T p.Arg442Cys

HGVS:

ClinVarID: 806808

CAID:

gnomAD: 0.00003098 (50 in 1614024) no homoztygotes https://gnomad.broadinstitute.org/variant/12-6064354-G-A?dataset=gnomad_r4

MultipleGeneVariants:

Gene: VWF

Variant: c.6536C>T p.Ser2179Phe

ClinVarID: 100442

gnomAD: 6.196e-7 (1 in 1614072) no homozygotes https://gnomad.broadinstitute.org/variant/12-5993924-G-A?dataset=gnomad_r4