ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.664C>T (p.Pro222Ser) (rs1060501203)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564109 SCV000672417 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000564109 SCV000910215 likely benign Hereditary cancer-predisposing syndrome 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV000477098 SCV000545333 uncertain significance Li-Fraumeni syndrome 2018-06-23 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 222 of the TP53 protein (p.Pro222Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual undergoing screening for hereditary breast and ovarian cancer, although it is unclear if this individual was actually affected with cancer (PMID: 24549055). ClinVar contains an entry for this variant (Variation ID: 406592). An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, 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.