Case: 6

DiseaseAssertion: type 2A/2N VWD

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeRext: VWF:Ag [IU/dL] = 9; VWF:Ac [IU/dL] = 1; FVIII:C [IU/dL] = 7

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.2560C > T p.Arg854Trp

HGVS:

ClinVarID: not found

CAID: CA228351

gnomAD: 0.00001549 (25 in 1614078) no homozygotes https://gnomad.broadinstitute.org/variant/12-6034813-G-A?dataset=gnomad_r4

MultipleGeneVariants:

Gene: VWF

Variant: c.7448dup p.Tyr2483*

ClinVarID: not found

gnomAD: 0.000001859 (3 in 1614148) no homozygotes https://gnomad.broadinstitute.org/variant/12-5971698-G-GT?dataset=gnomad_r4