Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569666 | SCV000671193 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-23 | criteria provided, single submitter | clinical testing | The p.Q399E variant (also known as c.1195C>G), located in coding exon 9 of the POLD1 gene, results from a C to G substitution at nucleotide position 1195. The glutamine at codon 399 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |