ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8584+10T>C (rs373321041)

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
Invitae RCV000232687 SCV000283083 likely benign Ataxia-telangiectasia syndrome 2020-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000425140 SCV000516169 benign not specified 2015-07-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV000580047 SCV000682503 likely benign Hereditary cancer-predisposing syndrome 2016-05-10 criteria provided, single submitter clinical testing
Counsyl RCV000232687 SCV000791814 likely benign Ataxia-telangiectasia syndrome 2017-05-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000425140 SCV001437361 uncertain significance not specified 2020-09-25 criteria provided, single submitter clinical testing Variant summary: ATM c.8584+10T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 5.2e-05 in 250982 control chromosomes, predominantly at a frequency of 0.00062 within the African or African-American subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in ATM causing Ataxia-Telangiectasia (5.2e-05 vs 0.004), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.8584+10T>C in individuals affected with Ataxia-Telangiectasia and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submitters (evaluation after 2014) cite the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Athena Diagnostics Inc RCV001288458 SCV001475576 likely benign not provided 2020-05-11 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.