ArticleJournal of thrombosis and haemostasis : JTH2024
The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change.
Article in Journal of thrombosis and haemostasis : JTH, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 9 citations in OpenAlex.
- Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.Thrombosis and haemostasis · 2026Article
- Observational
- The pivotal role of von Willebrand factor binding to platelet αIIbβ3 in stabilizing the formation of a platelet plug at sites of injury.Haematologica · 2025Article
- Article
- Rewriting the script: gene therapy and genome editing for von Willebrand Disease.Frontiers in genome editing · 2025Review
- Challenges and considerations of genetic testing in von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Review
- Application of genetic testing for the diagnosis of von Willebrand disease.Journal of thrombosis and haemostasis : JTH · 2024Review
- Variant p.Tyr1584Cys: a frequent von Willebrand factor variant in search of von Willebrand disease.Research and practice in thrombosis and haemostasis · 2024Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundAs knowledge of the human genome has advanced, so too has the recognition that interpretation of the pathogenic nature of sequence variants can be challenging. The von Willebrand factor (VWF) gene exhibits a significant degree of sequence variability, and the first VWF variant associated with type 1 von Willebrand disease (VWD), c.4751 A>G, p.Y1584C, was described in 2003. However, since that time, the pathogenic nature of this variant has remained unclear, being assigned properties ranging from a risk factor to a pathogenic variant.
objectivesTo provide additional evaluation on the interpretation of pathogenicity for this common VWF variant.
methodsFifty-eight subjects with only the p.Y1584C variant were recruited from 2 cohort studies (the Zimmerman Program and the Canadian type 1 VWD study). Clinical and laboratory phenotypes were assessed.
resultsThe prevalence of the p.Y1584C variant in our cohorts was 23- to 27-fold higher than that in large normal population databases. Significantly more p.Y1584C subjects had an abnormal bleeding score when compared to Y1584 individuals. In comparison with a group of 35 subjects without the p.Y1584C variant, subjects with the variant had lower mean VWF:antigen and VWF:ristocetin cofactor values and significantly higher VWF propeptide/VWF:antigen ratios suggestive of enhanced clearance.
conclusionCollectively, the results of this analysis suggest that p.Y1584C is likely pathogenic, however, due to influences such as incomplete penetrance, variable expressivity, and other genetic modifiers like ABO blood group, the straightforward assignment of pathogenicity to this variant is inevitably challenging.
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