ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.257_279del (p.Ala86fs)

dbSNP: rs886041861
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000365382 SCV000330641 pathogenic not provided 2020-01-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 26343386, 26000489)
Mendelics RCV000709410 SCV000839125 pathogenic Li-Fraumeni syndrome 2018-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002288957 SCV002582618 pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002288956 SCV002583180 pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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.