ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.422G>T (p.Cys141Phe)

dbSNP: rs587781288
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001214540 SCV001386224 uncertain significance Li-Fraumeni syndrome 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 141 of the TP53 protein (p.Cys141Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 376568). 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. Experimental studies have shown that this missense change does not substantially affect TP53 function (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.
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo RCV000435499 SCV001450481 pathogenic Squamous cell carcinoma of the head and neck criteria provided, single submitter case-control

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.