Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001015620 | SCV001176470 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-22 | criteria provided, single submitter | clinical testing | The c.2464_2465delGA variant, located in coding exon 19 of the POLD1 gene, results from a deletion of two nucleotides at nucleotide positions 2464 to 2465, causing a translational frameshift with a predicted alternate stop codon (p.D822Pfs*36). 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. |