Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011611 | SCV001171953 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | The c.1444_1445delCA pathogenic mutation, located in coding exon 12 of the MRE11A gene, results from a deletion of two nucleotides at nucleotide positions 1444 to 1445, causing a translational frameshift with a predicted alternate stop codon (p.Q482Afs*4). 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. |
Invitae | RCV001386114 | SCV001586230 | pathogenic | Ataxia-telangiectasia-like disorder | 2023-07-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 819233). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln482Alafs*4) 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). |