ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3390C>T (p.Cys1130=)

gnomAD frequency: 0.00001  dbSNP: rs1591865617
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851955 SCV000899378 likely pathogenic von Willebrand disease type 1 2019-02-01 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV000851955 SCV002546273 pathogenic von Willebrand disease type 1 2020-12-11 criteria provided, single submitter research
Laboratory of Hematology, Radboud University Medical Center RCV002245652 SCV002546274 pathogenic von Willebrand disease type 2 2020-12-11 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478454 SCV004221510 likely pathogenic not provided 2022-05-14 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.000008 (1/125176 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals and families affected with von Willebrand disease (PMID: 29893454 (2018)), Type 1 or 1H (PMID: 17190853 (2007), 28971901 (2017)), and Type 2A (PMID: 35452508 (2022)). It was also described in individuals having bleeding/platelet disorders (PMID: 31064749 (2019), 32640909 (2020)). Functional studies have also shown that this variant interferes with normal splicing and causes exon 26 skipping (p.Pro1127_Gly1180delinsArg) that results in defective multimerization, secretion, and FVIII binding activity (PMID: 23621778 (2013)). Based on the available information, this variant is classified as likely pathogenic.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003478454 SCV004243462 pathogenic not provided 2024-02-06 criteria provided, single submitter clinical testing
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV002245652 SCV002513364 pathogenic von Willebrand disease type 2 2022-04-26 no assertion criteria provided clinical testing

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