ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.941C>G (p.Ser314Cys)

dbSNP: rs751440465
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 RCV001052307 SCV001216511 uncertain significance Li-Fraumeni syndrome 2019-05-20 criteria provided, single submitter clinical testing 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. This variant has been reported not to substantially affect TP53 protein function (PMID: 12826609). This variant has not been reported in the literature in individuals with TP53-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 314 of the TP53 protein (p.Ser314Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine.
Baylor Genetics RCV004570192 SCV005054338 uncertain significance Adrenocortical carcinoma, hereditary 2024-02-07 criteria provided, single submitter clinical testing

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.