ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter)

dbSNP: rs1591862022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851803 SCV000899771 likely pathogenic Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811479 SCV002050233 pathogenic not provided 2020-11-23 criteria provided, single submitter clinical testing The VWF c.4931G>A; p.Trp1644Ter variant (rs1591862022) is reported in the literature in a homozygous individual affected with a coagulation disorder (Downes 2019). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. VWF loss-of-function is an established mechanism of disease, and truncating variants downstream of p.Trp1644Ter have been reported in individuals affected with type 3 von Willebrand disease and are considered disease-causing (Kasatkar 2014). Based on available information, the p.Trp1644Ter variant is considered to be pathogenic. References: Downes K et al. Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood. 2019 Dec 5;134(23):2082-2091. Kasatkar P, Shetty S, Ghosh K. Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients. PLoS One. 2014 Mar 27;9(3):e92575.

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