ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.448_455del (p.Thr150fs)

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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004997932 SCV005625959 pathogenic not provided 2024-04-04 criteria provided, single submitter clinical testing The TP53 c.448_455del (p.Thr150Alafs*28) variant alters the translational reading frame of the TP53 mRNA and causes the premature termination of TP53 protein synthesis. This variant has not been reported in individuals with TP53-related conditions in the published literature, but it has been observed in an individual in our internal patient population affected with cancers consistent with Li-Fraumeni syndrome. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as 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.