ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1341A>T (p.Ser447=)

gnomAD frequency: 0.00001  dbSNP: rs762323327
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 RCV001010950 SCV001171216 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-07 criteria provided, single submitter clinical testing The c.1341A>T variant (also known as p.S447S), located in coding exon 12 of the MRE11A gene, results from an A to T substitution at nucleotide position 1341. This nucleotide substitution does not change the serine at codon 447. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001496596 SCV001701296 likely benign Ataxia-telangiectasia-like disorder 2020-11-13 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.