Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000562902 | SCV000671518 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-04-30 | criteria provided, single submitter | clinical testing | The c.5093_5095delAGG variant (also known as p.E1698del) is located in coding exon 38 of the POLE gene. This variant results from an in-frame AGG deletion at nucleotide positions 5093 to 5095. This results in the in-frame deletion of a glutamic acid at codon 1698. The deleted amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV000760022 | SCV000814938 | uncertain significance | not provided | 2023-12-28 | criteria provided, single submitter | clinical testing | This variant, c.5093_5095del, results in the deletion of 1 amino acid(s) of the POLE protein (p.Glu1698del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 484481). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000760022 | SCV000889765 | uncertain significance | not provided | 2017-12-13 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000760022 | SCV003809177 | uncertain significance | not provided | 2022-01-05 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000760022 | SCV005391043 | uncertain significance | not provided | 2024-04-05 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |