Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000563905 | SCV000666420 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-09-17 | criteria provided, single submitter | clinical testing | The c.295_298delGTCA pathogenic mutation, located in coding exon 3 of the MRE11A gene, results from a deletion of 4 nucleotides at nucleotide positions 295 to 298, causing a translational frameshift with a predicted alternate stop codon (p.V99Tfs*10). 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. |
Athena Diagnostics Inc | RCV001288238 | SCV001475209 | likely pathogenic | not provided | 2019-12-10 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality. |
Invitae | RCV002232091 | SCV002509583 | pathogenic | Ataxia-telangiectasia-like disorder | 2023-03-26 | 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: 481758). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val99Thrfs*10) 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). |