Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001213689 | SCV001385335 | uncertain significance | Parathyroid carcinoma | 2023-07-16 | 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 expected to disrupt CDC73 protein function. ClinVar contains an entry for this variant (Variation ID: 943492). 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 lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 472 of the CDC73 protein (p.Lys472Glu). |
| Ambry Genetics | RCV002393489 | SCV002701805 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-10-23 | criteria provided, single submitter | clinical testing | The p.K472E variant (also known as c.1414A>G), located in coding exon 15 of the CDC73 gene, results from an A to G substitution at nucleotide position 1414. The lysine at codon 472 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |