ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.604C>T (p.Arg202Trp)

gnomAD frequency: 0.00003  dbSNP: rs990682639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760132 SCV000889923 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335410 SCV001528554 uncertain significance von Willebrand disease type 1 2018-03-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000760132 SCV005888844 likely pathogenic not provided 2024-09-15 criteria provided, single submitter clinical testing Identified with a second VWF variant, likely in cis, and a third VWF variant, likely in trans, in an individual with von Willebrand disease type 2A in the published literature (PMID: 19422453, 35452508); Published functional studies demonstrate that this variant leads to a VWF multimerization defect (PMID: 19422453); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19422453, 35776905, 35452508, 37647632)
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002245637 SCV002513372 uncertain significance von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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