ClinVar Miner

Submissions for variant NM_000551.3(VHL):c.358A>G (p.Arg120Gly) (rs869025642)

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 RCV000208800 SCV000626873 likely pathogenic Von Hippel-Lindau syndrome 2017-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 120 of the VHL protein (p.Arg120Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with von Hippel-Lindau disease (PMID: 11688393, 25867206, 20151405). ClinVar contains an entry for this variant (Variation ID: 223199). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000208800 SCV000264724 likely 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.