ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7215G>A (p.Met2405Ile) (rs879254179)

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
GeneDx RCV000236054 SCV000293726 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing This variant is denoted ATM c.7215G>A at the cDNA level, p.Met2405Ile (M2405I) at the protein level, and results in the change of a Methionine to an Isoleucine (ATG>ATA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Met2405Ile was not observed in large population cohorts (Lek 2016). This variant is located in the FAT domain (Stracker 2013). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether ATM Met2405Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000772050 SCV000905076 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-20 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.