ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1927-2A>G (rs587781822)

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
Ambry Genetics RCV000130102 SCV000184932 likely pathogenic Hereditary cancer-predisposing syndrome 2016-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000130102 SCV000288937 likely pathogenic Hereditary cancer-predisposing syndrome 2015-12-21 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MRE11A are known to be pathogenic (PMID: 10612394, 11371508). In summary, this is a rare consensus splice site sequence change which is expected to disrupt splicing and cause disease. Without experimental evidence for a splicing defect or previous reports of disease segregation, 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.