ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.610G>T (p.Glu204Ter)

dbSNP: rs2073336758
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 RCV003166582 SCV003878860 pathogenic Hereditary cancer-predisposing syndrome 2023-03-06 criteria provided, single submitter clinical testing The p.E204* pathogenic mutation (also known as c.610G>T), located in coding exon 5 of the TP53 gene, results from a G to T substitution at nucleotide position 610. This changes the amino acid from a glutamic acid to a stop codon within coding exon 5. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV004035354 SCV004931119 pathogenic Li-Fraumeni syndrome 1 2024-02-15 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Institute of Medical Sciences, Banaras Hindu University RCV001255667 SCV001432232 pathogenic Lip and oral cavity carcinoma 2019-04-30 no assertion criteria provided research

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.