ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4167A>G (p.Thr1389=) (rs183214437)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000123745 SCV000212975 benign Hereditary cancer-predisposing syndrome 2014-10-10 criteria provided, single submitter clinical testing
Color RCV000123745 SCV000537429 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000212010 SCV000167088 benign not specified 2014-03-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000589744 SCV000694274 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing Variant summary: The c.4167A>G (p.Thr1389=) variant affects a non-conserved nucleotide, resulting in synonymous change. 4/5 in silico tools predict no change on RNA splicing sites. These predictions have not been validated through in vitro/vivo functional studies yet. This variant is found in 12/121766 control chromosomes at a frequency of 0.0000985, which does not exceed the maximal expected frequency of a pathogenic allele (0.0005001). This variant has been reported in one BrC patient without strong evidence for causality. In addition, two clinical laboratories classified this variant as benign and an additional 2 laboratories have classified it as "likely benign" without evidence to independently evaluate. Taken together, this variant was classified as a VUS-possibly benign variant until more evidence becomes available.
Invitae RCV000226030 SCV000282955 likely benign Ataxia-telangiectasia syndrome 2017-10-18 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.