ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5692C>T (p.Arg1898Ter) (rs775036118)

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
Ambry Genetics RCV000571941 SCV000667807 pathogenic Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000571941 SCV000687636 pathogenic Hereditary cancer-predisposing syndrome 2017-04-10 criteria provided, single submitter clinical testing
Counsyl RCV000671308 SCV000796269 pathogenic Ataxia-telangiectasia syndrome 2017-12-08 criteria provided, single submitter clinical testing
Invitae RCV000671308 SCV000956854 pathogenic Ataxia-telangiectasia syndrome 2018-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1898*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775036118, ExAC 0.006%). This variant has been observed in individuals affected with ataxia-telangiectasia and breast cancer (PMID: 17124347, 25077176, 23454770, 25374739, 23322442, 28724667). ClinVar contains an entry for this variant (Variation ID: 482526). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). 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.