Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048912 | SCV001212942 | uncertain significance | Fanconi anemia complementation group O | 2019-07-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with RAD51C-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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 51 of the RAD51C protein (p.Gly51Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. 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. |
Sema4, |
RCV002258105 | SCV002531800 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-13 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002258105 | SCV003861276 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-18 | criteria provided, single submitter | clinical testing | The p.G51A variant (also known as c.152G>C), located in coding exon 2 of the RAD51C gene, results from a G to C substitution at nucleotide position 152. The glycine at codon 51 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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, |
RCV002258105 | SCV004357097 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-06 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with alanine at codon 51 of the RAD51C protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RAD51C-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |