ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1047_1048del (p.Glu350fs)

dbSNP: rs1591688367
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
Invitae RCV000817556 SCV000958123 pathogenic Ataxia-telangiectasia-like disorder 2018-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu350Thrfs*4) in the MRE11 gene. It is expected to result 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 MRE11-related disease. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). For these reasons, this variant has been classified as Pathogenic.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001766724 SCV002009667 likely pathogenic Ataxia-telangiectasia-like disorder 1 2021-11-03 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.