ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7274G>T (p.Gly2425Val) (rs148949644)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115245 SCV000149154 uncertain significance not provided 2014-01-20 criteria provided, single submitter clinical testing This variant is denoted ATM c.7274G>T at the cDNA level, p.Gly2425Val (G2425V) at the protein level, and results in the change of a Glycine to a Valine (GGT>GTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Gly2425Val was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. This variant is a conservative substitution of one neutral non-polar amino acid for another, altering a position that is well conserved throughout evolution and is located in the FAT domain (UniProt). A missense pathogenic variant in a nearby position has been reported in the literature, according to HGMD (V2424G). In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. Based on the currently available information, we consider ATM Gly2425Val to be 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.