ClinVar Miner

Submissions for variant NM_000552.4(VWF):c.5278G>A (p.Val1760Ile) (rs61750604)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852150 SCV000899790 likely pathogenic Abnormality of coagulation 2019-02-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086832 SCV001148576 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001933 SCV001159702 uncertain significance not specified 2019-06-27 criteria provided, single submitter clinical testing The VWF c.5278G>A; p.Val1760Ile variant (rs61750604) is reported in the literature in several individuals and families affected with von Willebrand disease type 1, although its clinical significance was not determined (Borras 2017, James 2007, Johansson 2011). This variant is found in the non-Finnish European population with an overall allele frequency of 0.14% (176/129096 alleles, including one homozygote) in the Genome Aggregation Database. The valine at codon 1760 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Val1760Ile variant is uncertain at this time. References: Borras N et al. Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. Haematologica. 2017 Dec;102(12):2005-2014. James PD et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood. 2007 Jan 1;109(1):145-54. Johansson AM et al. Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease. Ann Hum Genet. 2011 Jul;75(4):447-55.
Academic Unit of Haematology, University of Sheffield RCV000086832 SCV000119038 not provided not provided no assertion provided not provided

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