ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.277_278del (p.Leu93fs)

dbSNP: rs1597374098
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
Ambry Genetics RCV001016546 SCV001177511 pathogenic Hereditary cancer-predisposing syndrome 2018-11-07 criteria provided, single submitter clinical testing The c.277_278delCT pathogenic mutation, located in coding exon 3 of the TP53 gene, results from a deletion of two nucleotides at nucleotide positions 277 to 278, causing a translational frameshift with a predicted alternate stop codon (p.L93Vfs*55). This mutation was reported in 1/937 Chinese patients at high risk for hereditary breast cancer (Li J et al. Int. J. Cancer 2018 May). In addition to the clinical data presented in the literature, 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.

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.