Case: 7 (also in row 2 splice variants table 6)

DiseaseAssertion: type 2A VWD

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs: HP:0032442 - blood group O

CaseHPOFreeRext: VWF:Ag [IU/dL] = 27; VWF:Ac [IU/dL] = 16; FVIII:C [IU/dL] = 31

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.2546+1G > A

HGVS:

ClinVarID: not found

CAID: CA383520269

gnomAD: 0.000001239 (2 in 1614166) no homozygotes https://gnomad.broadinstitute.org/variant/12-6036387-C-T?dataset=gnomad_r4

MultipleGeneVariants:

Gene: VWF

Variant: c.5092G > T p.Gly1698Cys

CAID: CA383496674

gnomAD: 6.196e-7 (1 in 1613980) no homozygotes https://gnomad.broadinstitute.org/variant/chr12-6016832-C-A?dataset=gnomad_r4