Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001343532 | SCV001537520 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2024-03-09 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 2 of the POLD1 protein (p.Asp2His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1039963). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Institute for Clinical Genetics, |
RCV003238350 | SCV002010549 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004945039 | SCV005479395 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-13 | criteria provided, single submitter | clinical testing | The p.D2H variant (also known as c.4G>C), located in coding exon 1 of the POLD1 gene, results from a G to C substitution at nucleotide position 4. The aspartic acid at codon 2 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |