ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.488A>G (p.Gln163Arg) (rs876660598)

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
Ambry Genetics RCV000222208 SCV000278157 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000818786 SCV000959418 uncertain significance Ataxia-telangiectasia syndrome 2018-10-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 163 of the ATM protein (p.Gln163Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of ataxia telangiectasia (PMID: 22071889). ClinVar contains an entry for this variant (Variation ID: 233723). Experimental studies have shown that this missense change does not affect the expression or subcellular localization of the ATM protein (PMID: 22071889). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.