ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.103C>A (p.Arg35=) (rs55861249)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162607 SCV000213034 likely benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Color RCV000162607 SCV000681948 likely benign Hereditary cancer-predisposing syndrome 2015-08-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589960 SCV000694168 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The ATM c.103C>A (p.Arg35Arg) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 9/121272 control chromosomes at a frequency of 0.0000742, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). The variant was reported in the literature without evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000227829 SCV000282858 likely benign Ataxia-telangiectasia syndrome 2017-12-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242698 SCV000301649 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000589960 SCV000805488 likely benign not provided 2016-03-02 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.