ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.566G>C (p.Arg189Thr) (rs79075295)

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 RCV000165882 SCV000216633 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000536902 SCV000622613 uncertain significance Ataxia-telangiectasia syndrome 2019-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 189 of the ATM protein (p.Arg189Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 186308). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on ATM function. The available evidence is currently insufficient to determine its role 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.