Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000167449 | SCV000218305 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-12-31 | criteria provided, single submitter | clinical testing | The c.739dupC pathogenic mutation, located in coding exon 7 of the MRE11A gene, results from a duplication of C at nucleotide position 739, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
| Invitae | RCV002228994 | SCV000642137 | pathogenic | Ataxia-telangiectasia-like disorder | 2017-02-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in MRE11A are known to be pathogenic (PMID: 10612394, 11371508). This sequence change inserts 1 nucleotide in exon 8 of the MRE11A mRNA (c.739dupC), causing a frameshift at codon 247. This creates a premature translational stop signal (p.His247Profs*2) and is expected to result in an absent or disrupted protein product. |