Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000218839 | SCV000277395 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | The c.1633_1640delCTTATGAG pathogenic mutation, located in coding exon 14 of the MRE11A gene, results from a deletion of 8 nucleotides at nucleotide positions 1633 to 1640, causing a translational frameshift with a predicted alternate stop codon (p.L545Yfs*9). 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 | RCV002229304 | SCV002509594 | pathogenic | Ataxia-telangiectasia-like disorder | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu545Tyrfs*9) 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 present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 233090). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003469065 | SCV004193890 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2022-05-19 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003469065 | SCV004238288 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2023-02-27 | criteria provided, single submitter | clinical testing |