ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)

dbSNP: rs267607337
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001250230 SCV001424511 pathogenic Hereditary von Willebrand disease criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280869 SCV002569253 pathogenic Thrombocytopenia criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086708 SCV004221524 pathogenic not provided 2023-08-17 criteria provided, single submitter clinical testing The VWF c.3931C>T (p.Gln1311*) variant causes the premature termination of VWF protein synthesis. This variant has been reported in the published literature in individuals with type 3 von Willebrand disease (VWD) (PMIDs: 11122100 (2000), 28971901 (2017), 31532876 (2019)). Additionally, this variant is part of a gene conversion event that occurs between the VWF gene and it's pseudogene, in which the variant results in a null allele (PMIDs: 12737944 (2003), 19277422 (2009), 31532876 (2019)). The frequency of this variant in the general population, 0.00039 (12/30604 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000086708 SCV005414046 pathogenic not provided 2024-07-29 criteria provided, single submitter clinical testing PP1, PP5, PS4_moderate, PVS1
Academic Unit of Haematology, University of Sheffield RCV000086708 SCV000118912 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787056 SCV001572687 pathogenic von Willebrand disease type 3 2020-11-01 no assertion criteria provided clinical testing variant already reported in ClinVar

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.