Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023987 | SCV001185936 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-10 | criteria provided, single submitter | clinical testing | The c.537_542delGCAGGA variant (also known as p.E179_Q180del) is located in coding exon 6 of the POLE gene. This variant results from an in-frame deletion of 6 nucleotides at positions 537 to 542. This results in the deletion of 2 amino acids between codons 179 and 180. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |