ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)

dbSNP: rs267607364
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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 RCV001787077 SCV000899907 likely pathogenic von Willebrand disease type 3 2019-02-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003993804 SCV004813676 pathogenic von Willebrand disorder 2024-02-06 criteria provided, single submitter clinical testing Variant summary: VWF c.7664_7665insAG (p.Cys2557SerfsX8) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251292 control chromosomes. c.7664_7665insAG has been reported in the literature in at least one homozygous individual affected with a coagulation disorder (e.g. Downes_2019). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 31064749). ClinVar contains an entry for this variant (Variation ID: 100481). Based on the evidence outlined above, the variant was classified as pathogenic.
Academic Unit of Haematology, University of Sheffield RCV000086895 SCV000119101 not provided not provided no assertion provided not provided

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