Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000793892 | SCV000933270 | uncertain significance | Parathyroid carcinoma | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with glutamine at codon 525 of the CDC73 protein (p.His525Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. 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. |
| Fulgent Genetics, |
RCV002493447 | SCV002783377 | uncertain significance | Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors | 2022-03-05 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004027461 | SCV005028734 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-06 | criteria provided, single submitter | clinical testing | The p.H525Q variant (also known as c.1575T>G), located in coding exon 17 of the CDC73 gene, results from a T to G substitution at nucleotide position 1575. The histidine at codon 525 is replaced by glutamine, 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 alteration remains unclear. |