ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.922T>C (p.Trp308Arg)

dbSNP: rs2079878501
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 RCV001314083 SCV001504598 uncertain significance Ataxia-telangiectasia syndrome 2023-05-01 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1015253). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 308 of the ATM protein (p.Trp308Arg).
Ambry Genetics RCV004034307 SCV005021400 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-10 criteria provided, single submitter clinical testing The p.W308R variant (also known as c.922T>C), located in coding exon 7 of the ATM gene, results from a T to C substitution at nucleotide position 922. The tryptophan at codon 308 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available 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.