ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6347+1G>A (rs1057517120)

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
Counsyl RCV000409839 SCV000486777 likely pathogenic Ataxia-telangiectasia syndrome 2016-08-04 criteria provided, single submitter clinical testing
Invitae RCV000409839 SCV000818964 pathogenic Ataxia-telangiectasia syndrome 2018-08-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 43 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 been observed in an individual affected with Ataxia-Telangiectasia (PMID: 10330348). ClinVar contains an entry for this variant (Variation ID: 371243). Experimental study has shown that this variant causes abnormal splicing which creates a transcript that is lacking of exon 43-45 and results in a frameshift protein (PMID: 10330348). 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). For these reasons, this variant has been classified as 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.