ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)

dbSNP: rs779269083
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210166 SCV000278392 pathogenic Hereditary cancer-predisposing syndrome 2020-01-07 criteria provided, single submitter clinical testing The p.E77* pathogenic mutation (also known as c.229G>T), located in coding exon 3 of the MRE11A gene, results from a G to T substitution at nucleotide position 229. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV002229537 SCV002509494 pathogenic Ataxia-telangiectasia-like disorder 2025-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu77*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with endometrium cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 224574). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003468973 SCV004193866 likely pathogenic Ataxia-telangiectasia-like disorder 1 2023-03-15 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000210166 SCV000266188 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-20 flagged submission 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.