ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.672+2T>A (rs1555525703)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000609770 SCV000731811 likely pathogenic Li-Fraumeni syndrome 2017-11-01 criteria provided, single submitter clinical testing The c.672+2T>A variant in TP53 has not been previously reported in individuals w ith Li-Fraumeni syndrome and was absent from large population studies. This vari ant occurs in the invariant region (+/- 1,2) of the splice consensus sequence an d is predicted to cause altered splicing leading to an abnormal or absent protei n. Loss of function of the TP53 gene is an established disease mechanism for Li Fraumeni syndrome. Three other variants at this splice site have been reported i n individuals with Li-Fraumeni syndrome, two of them affecting the same nucleoti de (Wong 2003, Gonzalez 2009) and two affecting the +1 position (Sakurai 2103, A chatz 2017), further supporting a pathogenic role of the c.672+2T>A variant. In summary, although additional studies are required to fully establish its clinica l significance, the c.672+2T>A variant is likely pathogenic.

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.