Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000662443 | SCV000784908 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | 2017-02-10 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002424566 | SCV002743581 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-07 | criteria provided, single submitter | clinical testing | The p.L91F variant (also known as c.271C>T), located in coding exon 2 of the RAD51C gene, results from a C to T substitution at nucleotide position 271. The leucine at codon 91 is replaced by phenylalanine, an amino acid with highly similar properties. This variant was identified in 1/3447 cases of invasive epithelial ovarian cancer and in 0/4812 unaffected controls (Song H et al. J Clin Oncol, 2015 Sep;33:2901-7). This amino acid position is highly 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. |
| Invitae | RCV002530599 | SCV003443307 | uncertain significance | Fanconi anemia complementation group O | 2022-08-27 | 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 91 of the RAD51C protein (p.Leu91Phe). 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: 548726). This missense change has been observed in individual(s) with RAD51C-related conditions (PMID: 26261251). This variant is not present in population databases (gnomAD no frequency). |