Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001221742 | SCV001393804 | uncertain significance | Parathyroid carcinoma | 2022-06-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 950103). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 265 of the CDC73 protein (p.Pro265Leu). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
| Ambry Genetics | RCV002418765 | SCV002677434 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-06 | criteria provided, single submitter | clinical testing | The p.P265L variant (also known as c.794C>T), located in coding exon 8 of the CDC73 gene, results from a C to T substitution at nucleotide position 794. The proline at codon 265 is replaced by leucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |