ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.273_279del (p.Trp91fs) (rs1064796124)

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
GeneDx RCV000479803 SCV000572569 likely pathogenic not provided 2016-12-21 criteria provided, single submitter clinical testing The c.273_279delGCCCCTG variant in the TP53 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Tryptophan 91, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 30 of the new reading frame, denoted p.Trp91CysfsX30. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, c.273_279delGCCCCTG is a strong candidate for a pathogenic variant. However, the possibility it could be a rare benign variant cannot be excluded.

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.