ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.3738_3760del (p.Pro1247fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800080 SCV005423439 pathogenic von Willebrand disorder 2024-10-04 criteria provided, single submitter clinical testing Variant summary: VWF c.3738_3760del23 (p.Pro1247HisfsX38) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 4e-06 in 247400 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3738_3760del23 in individuals affected with Von Willebrand Disease and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.