ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8585-2A>C (rs1060501700)

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 RCV000482474 SCV000568339 likely pathogenic not provided 2017-01-25 criteria provided, single submitter clinical testing This variant is denoted ATM c.8585-2A>C or IVS58-2A>C and consists of an A>C nucleotide substitution at the -2 position of intron 58 of the ATM gene. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been reported in the homozygous state in an individual with Ataxia-Telangiectasia (Jeddane 2013). Based on the currently available information, we consider ATM c.8585-2A>C to be a likely pathogenic variant.
Invitae RCV000462876 SCV000547126 likely pathogenic Ataxia-telangiectasia syndrome 2016-11-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 58 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in an individual affected with ataxia-telangectasia (PMID: 23322442). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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.