ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1093C>T (p.Arg365Ter)

dbSNP: rs61754003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004549525 SCV004110839 pathogenic VWF-related disorder 2023-03-09 criteria provided, single submitter clinical testing The VWF c.1093C>T variant is predicted to result in premature protein termination (p.Arg365*). This variant was reported in a family with Von Willebrand disease (Bahnak et al. 1991. PubMed ID: 1868248). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in VWF are expected to be pathogenic. This variant is interpreted as pathogenic.
Academic Unit of Haematology, University of Sheffield RCV000086556 SCV000118760 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787040 SCV001572629 pathogenic von Willebrand disease type 3 2021-04-12 no assertion criteria provided clinical testing

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