ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.-29+1G>T

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003510440 SCV004251967 uncertain significance Li-Fraumeni syndrome 2023-11-09 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the TP53 gene. It does not change the encoded amino acid sequence of the TP53 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Li-Fraumeni syndrome and/or osteosarcoma (PMID: 10980596, 32191290). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS1+1G>T. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.