ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.461G>T (p.Gly154Val)

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 RCV000807194 SCV000947236 uncertain significance Li-Fraumeni syndrome 2018-10-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 154 of the TP53 protein (p.Gly154Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with astrocytoma and glioblastoma (PMID: 7664239). Experimental studies have shown that this missense change disrupts the DNA-binding activity (PMID: 20128691) and transcriptional transactivation activity of the TP53 protein (PMID: 12826609, 8336941, 21343334, 9407971). 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.