ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.287A>C (p.Gln96Pro)

dbSNP: rs1559426089
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000767252 SCV000897799 uncertain significance Von Hippel-Lindau syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440591 SCV002747104 likely pathogenic Hereditary cancer-predisposing syndrome 2019-07-09 criteria provided, single submitter clinical testing The p.Q96P variant (also known as c.287A>C), located in coding exon 1 of the VHL gene, results from an A to C substitution at nucleotide position 287. The glutamine at codon 96 is replaced by proline, an amino acid with similar properties. This alteration was identified in a VHL cohort (Maher ER et al. J. Med. Genet., 1996 Apr;33:328-32). This amino acid position is not well conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. In addition, this variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be 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.