ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8418G>A (p.Met2806Ile) (rs762744146)

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
Invitae RCV000545748 SCV000622820 uncertain significance Ataxia-telangiectasia syndrome 2017-01-11 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 2806 of the ATM protein (p.Met2806Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. It also falls at the last nucleotide of exon 57 of the ATM coding sequence. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ATM-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function and mRNA splicing. It has been classified as 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.