Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025496 | SCV001187696 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-13 | criteria provided, single submitter | clinical testing | The p.Q2217* variant (also known as c.6649C>T), located in coding exon 47 of the POLE gene, results from a C to T substitution at nucleotide position 6649. This changes the amino acid from a glutamine to a stop codon within coding exon 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. |