ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly)

dbSNP: rs758614348
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
Color Diagnostics, LLC DBA Color Health RCV000771932 SCV000904728 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000821685 SCV000962454 uncertain significance Ataxia-telangiectasia syndrome 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2422 of the ATM protein (p.Glu2422Gly). This variant is present in population databases (rs758614348, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 627891). 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. 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.
Ambry Genetics RCV000771932 SCV001188549 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-03 criteria provided, single submitter clinical testing The p.E2422G variant (also known as c.7265A>G), located in coding exon 48 of the ATM gene, results from an A to G substitution at nucleotide position 7265. The glutamic acid at codon 2422 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003465689 SCV004209443 uncertain significance Familial cancer of breast 2023-09-15 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.