ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe)

dbSNP: rs267607324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000086654 SCV004221509 pathogenic not provided 2023-04-09 criteria provided, single submitter clinical testing This missense variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with type 1, type 2A, and type 2M von Willebrand disease (PMID: 28536718 (2017), 26986123 (2016), 20303469 (2010), 16985174 (2007)). It also segregated with disease in family studies (PMID: 10792299 (2000)). Additionally, a functional study indicated this variant had deleterious effects on VWF storage, protein processing, and secretion in vivo (PMID: 22207689 (2012)). Based on the available information, this variant is classified as pathogenic.
Academic Unit of Haematology, University of Sheffield RCV000086654 SCV000118858 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002243723 SCV002513365 uncertain significance von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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