Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284343 | SCV001470084 | uncertain significance | not provided | 2019-12-26 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001326813 | SCV001517863 | uncertain significance | Fanconi anemia complementation group O | 2022-08-22 | 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 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"). ClinVar contains an entry for this variant (Variation ID: 993148). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 330 of the RAD51C protein (p.Pro330Arg). |
| Gene |
RCV001284343 | SCV001989114 | uncertain significance | not provided | 2017-10-03 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Baylor Genetics | RCV003469503 | SCV004207991 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-06-16 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004944959 | SCV005490155 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-11-21 | criteria provided, single submitter | clinical testing | The p.P330R variant (also known as c.989C>G), located in coding exon 8 of the RAD51C gene, results from a C to G substitution at nucleotide position 989. The proline at codon 330 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |