ClinVar Miner

Submissions for variant NC_000003.11:g.(?_10183579)_(10185909_?)del

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
Invitae RCV001999885 SCV002233164 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2021-02-10 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 1 (c.54_340+2044del) of the VHL gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). This variant has not been reported in the literature in individuals with VHL-related conditions. This variant disrupts the p.Pro81 amino acid residue in VHL. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22241717, 17102082, 21389259, 27730413, 24134185). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been 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.