ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5129_5763-1060del

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
Labcorp Genetics (formerly Invitae), Labcorp RCV000823614 SCV000964479 likely pathogenic Ataxia-telangiectasia syndrome 2019-08-19 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 35-38 and part of exon 34 (c.5129_5763-1060del) of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. A similar variant has been observed in an individual affected with ataxia-telangiectasia (PMID: 27664052). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, 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.