ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.331+1G>A (rs1555055356)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576405 SCV000678177 likely pathogenic Ataxia-telangiectasia syndrome 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV000576405 SCV000828879 likely pathogenic Ataxia-telangiectasia syndrome 2018-04-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the ATM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 487450). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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.
Color RCV000777474 SCV000913336 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-09 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788912 SCV000928204 likely pathogenic not provided 2019-02-05 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.