ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)

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
Ambry Genetics RCV002370754 SCV002670140 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-15 criteria provided, single submitter clinical testing The p.T2396S variant (also known as c.7186A>T), located in coding exon 48 of the ATM gene, results from an A to T substitution at nucleotide position 7186. The threonine at codon 2396 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003500739 SCV004312172 likely benign Ataxia-telangiectasia syndrome 2023-05-31 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.