Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000648263 | SCV000770077 | uncertain significance | Fanconi anemia complementation group O | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with serine at codon 127 of the RAD51C protein (p.Pro127Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 538782). 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: "Tolerated"; 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 | RCV002360616 | SCV002625403 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-13 | criteria provided, single submitter | clinical testing | The p.P127S variant (also known as c.379C>T), located in coding exon 2 of the RAD51C gene, results from a C to T substitution at nucleotide position 379. The proline at codon 127 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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. |