ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.2269_2270del (p.Leu757fs)

gnomAD frequency: 0.00001  dbSNP: rs61748465
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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 RCV000086593 SCV005622787 likely pathogenic not provided 2024-10-30 criteria provided, single submitter clinical testing The VWF c.2269_2270del (p.Leu757Valfs*22) variant alters the translational reading frame of the VWF mRNA and is predicted to cause the premature termination of VWF protein synthesis. This variant has not been reported in individuals with VWF-related conditions in the published literature. The frequency of this variant in the general population, 0.000008 (2/251330 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, this variant is classified as likely pathogenic.
Academic Unit of Haematology, University of Sheffield RCV000086593 SCV000118797 not provided not provided no assertion provided not provided
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001787046 SCV001572650 likely pathogenic von Willebrand disease type 3 2021-04-12 no assertion criteria provided clinical testing

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