ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7505G>T (p.Gly2502Val)

dbSNP: rs754517317
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001068510 SCV001233626 uncertain significance Ataxia-telangiectasia syndrome 2023-05-09 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 861895). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs754517317, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2502 of the ATM protein (p.Gly2502Val).
Ambry Genetics RCV004030680 SCV004911145 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-26 criteria provided, single submitter clinical testing The c.7505G>T (p.G2502V) alteration is located in exon 50 (coding exon 49) of the ATM gene. This alteration results from a G to T substitution at nucleotide position 7505, causing the glycine (G) at amino acid position 2502 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.