ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.869G>C (p.Arg290Pro) (rs55819519)

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 RCV000535005 SCV000629881 uncertain significance Li-Fraumeni syndrome 2017-04-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 290 of the TP53 protein (p.Arg290Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TP53-related disease. An experimental study in yeast has shown that this missense variant results in a partially functional TP53 protein that displays selectivity in promoter transactivation activity (PMID: 12826609). The clinical significance of these findings is uncertain. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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.