ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2308G>T (p.Glu770Ter) (rs1555075721)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777264 SCV000912966 pathogenic Hereditary cancer-predisposing syndrome 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000558902 SCV000622319 pathogenic Ataxia-telangiectasia syndrome 2017-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 770 (p.Glu770*) of the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic. This particular variant has been reported in the literature in individuals with chronic lymphocytic leukemia (PMID: 21933854, 17968022, 16014569). For these reasons, this variant has been 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.