ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.725G>C (p.Cys242Ser)

dbSNP: rs121912655
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 RCV000801823 SCV000941619 uncertain significance Li-Fraumeni syndrome 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 242 of the TP53 protein (p.Cys242Ser). This variant is present in population databases (rs121912655, gnomAD 0.003%). This missense change has been observed in individual(s) with ovarian cancer (PMID: 30918304). ClinVar contains an entry for this variant (Variation ID: 647334). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is expected to disrupt TP53 function. Experimental studies have shown that this missense change affects TP53 function (PMID: 9405613, 10713666, 17170001, 19681600, 20407015). 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.
Myriad Genetics, Inc. RCV004028076 SCV004931859 likely pathogenic Li-Fraumeni syndrome 1 2024-02-16 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 7791795, 10713666]. This variant is expected to disrupt protein structure [Myriad internal data].

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.