Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000575260 | SCV000671197 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-02-27 | criteria provided, single submitter | clinical testing | The c.2916delC variant, located in coding exon 22 of the POLD1 gene, results from a deletion of one nucleotide at nucleotide position 2916, causing a translational frameshift with a predicted alternate stop codon (p.I973Sfs*72). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of POLD1 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. |