Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000547661 | SCV000636205 | uncertain significance | Parathyroid carcinoma | 2022-05-27 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 462766). 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 0.002%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 209 of the CDC73 protein (p.Lys209Gln). |
| Ambry Genetics | RCV002367832 | SCV002660787 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-01 | criteria provided, single submitter | clinical testing | The p.K209Q variant (also known as c.625A>C), located in coding exon 7 of the CDC73 gene, results from an A to C substitution at nucleotide position 625. The lysine at codon 209 is replaced by glutamine, 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. |