Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003849419 | SCV004650709 | uncertain significance | Parathyroid carcinoma | 2023-06-15 | criteria provided, single submitter | clinical testing | 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt CDC73 protein function. This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 341 of the CDC73 protein (p.Pro341Thr). |
| Ambry Genetics | RCV004605061 | SCV005100461 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-09 | criteria provided, single submitter | clinical testing | The p.P341T variant (also known as c.1021C>A), located in coding exon 11 of the CDC73 gene, results from a C to A substitution at nucleotide position 1021. The proline at codon 341 is replaced by threonine, an amino acid with highly 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. |