ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.163dup (p.Glu55fs)

dbSNP: rs869025615
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036535 SCV001199903 pathogenic Chuvash polycythemia; Von Hippel-Lindau syndrome 2019-12-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). This variant has been observed in a family with clinical features of von Hippel-Lindau syndrome (PMID: 15300849). ClinVar contains an entry for this variant (Variation ID: 223159). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu55Glyfs*77) in the VHL gene. It is expected to result in an absent or disrupted protein product.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000208829 SCV000264665 pathogenic Von Hippel-Lindau syndrome 2016-02-26 no assertion criteria provided clinical testing

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.