Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022676 | SCV001184436 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-05 | criteria provided, single submitter | clinical testing | The c.4543_4546delCTGGinsTCC variant, located in coding exon 35 of the POLE gene, results from the deletion of 4 nucleotides and insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.L1515Sfs*47). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of POLE has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |