ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)

dbSNP: rs1060501590
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476634 SCV000546813 uncertain significance Ataxia-telangiectasia syndrome 2023-05-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 407540). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This missense change has been observed in individual(s) with prostate cancer (PMID: 33436325). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1098 of the ATM protein (p.Gln1098Arg).
GeneDx RCV000482771 SCV000573400 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with prostate cancer and absent in controls (Karlsson et al., 2021); This variant is associated with the following publications: (PMID: 33436325, 19781682)
Color Diagnostics, LLC DBA Color Health RCV000581017 SCV000682115 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581017 SCV001181141 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-15 criteria provided, single submitter clinical testing The p.Q1098R variant (also known as c.3293A>G), located in coding exon 22 of the ATM gene, results from an A to G substitution at nucleotide position 3293. The glutamine at codon 1098 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000482771 SCV002010829 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Mendelics RCV002248677 SCV002516955 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003476057 SCV004203672 uncertain significance Familial cancer of breast 2023-10-30 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.