Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569116 | SCV000663785 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-09-25 | criteria provided, single submitter | clinical testing | The p.L230F variant (also known as c.688C>T), located in coding exon 4 of the RAD51C gene, results from a C to T substitution at nucleotide position 688. The leucine at codon 230 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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. |
Color Diagnostics, |
RCV000569116 | SCV000686370 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000801585 | SCV000941367 | uncertain significance | Fanconi anemia complementation group O | 2022-03-08 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 230 of the RAD51C protein (p.Leu230Phe). This variant is present in population databases (rs751528808, gnomAD 0.003%). 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: 480506). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. |