Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000566110 | SCV000669695 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-08-02 | criteria provided, single submitter | clinical testing | The c.983_985dupTAA variant (also known as p.V328_T329insI), located in coding exon 8 of the MRE11A gene, results results from an in-frame duplication of TAA at nucleotide positions 983 to 985. This results in the insertion of a isoleucine residue between codons 328 and 329. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV001066694 | SCV001231710 | uncertain significance | Ataxia-telangiectasia-like disorder | 2019-01-21 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 483656). This variant is not present in population databases (ExAC no frequency). This variant, c.983_985dup, results in the insertion of 1 amino acid(s) to the MRE11 protein (p.Val328_Thr329insIle), but otherwise preserves the integrity of the reading frame. |