Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000691395 | SCV000819171 | uncertain significance | Colorectal cancer, susceptibility to, 10 | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 218 of the POLD1 protein (p.Arg218Cys). 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: 570525). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on POLD1 protein function. 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. |
| Fulgent Genetics, |
RCV000764213 | SCV000895216 | uncertain significance | Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV003133531 | SCV003809174 | uncertain significance | Mandibular hypoplasia-deafness-progeroid syndrome | 2022-05-16 | criteria provided, single submitter | clinical testing |