Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571390 | SCV000671136 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-25 | criteria provided, single submitter | clinical testing | The p.D316G variant (also known as c.947A>G), located in coding exon 7 of the POLD1 gene, results from an A to G substitution at nucleotide position 947. The aspartic acid at codon 316 is replaced by glycine, an amino acid with similar properties. This alteration has been identified in a Lynch syndrome-like family and considered pathogenic by authors (Bellido F et al, Genet. Med. 2016 Apr; 18(4):325-32). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |