Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001316172 | SCV001506777 | uncertain significance | Parathyroid carcinoma | 2021-07-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1017078). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with valine at codon 298 of the CDC73 protein (p.Phe298Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 | RCV004951513 | SCV005553826 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-17 | criteria provided, single submitter | clinical testing | The p.F298V variant (also known as c.892T>G), located in coding exon 9 of the CDC73 gene, results from a T to G substitution at nucleotide position 892. The phenylalanine at codon 298 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |