Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019630 | SCV001181014 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-16 | criteria provided, single submitter | clinical testing | The p.K323N variant (also known as c.969A>T), located in coding exon 7 of the POLD1 gene, results from an A to T substitution at nucleotide position 969. The lysine at codon 323 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice donor site, but is predicted to weaken (but not abolish) the efficiency of the native splice donor site by ESEfinder; however, direct evidence is unavailable. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |