ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys)

gnomAD frequency: 0.00006  dbSNP: rs61751283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852195 SCV000899884 uncertain significance Hereditary von Willebrand disease 2019-02-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509210 SCV002819767 uncertain significance not specified 2022-12-23 criteria provided, single submitter clinical testing Variant summary: VWF c.7135C>T (p.Arg2379Cys) results in a non-conservative change to a highly conserved amino acid in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 251010 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.7135C>T has been reported in the literature in individuals affected with Von Willebrand Disease and Hemolytic Uremic Syndrome without evidence of causality and with other co-occurring variants (James_2007, Downes_2019, Haydock_2022). These reports do not provide unequivocal conclusions about association of the variant with Von Willebrand Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One submitter has provided a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation, classifying the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Academic Unit of Haematology, University of Sheffield RCV000086873 SCV000119079 not provided not provided no assertion provided not provided

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