Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000164971 | SCV000215664 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-12-27 | criteria provided, single submitter | clinical testing | The c.504_511delGCTTCAAA pathogenic mutation, located in coding exon 5 of the MRE11A gene, results from a deletion of 8 nucleotides at nucleotide positions 504 to 511, causing a translational frameshift with a predicted alternate stop codon (p.L169Rfs*16). This alteration was identified in an individual diagnosed with a mesothelioma (Guo R et al. J Thorac Oncol, 2020 04;15:655-660). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 | RCV001059474 | SCV001224098 | pathogenic | Ataxia-telangiectasia-like disorder | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu169Argfs*16) 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 a personal or family history of breast and/or ovarian cancer (PMID: 24549055). ClinVar contains an entry for this variant (Variation ID: 185530). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003468726 | SCV004193863 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2023-03-20 | criteria provided, single submitter | clinical testing |