Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130100 | SCV000184930 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-15 | criteria provided, single submitter | clinical testing | The p.H179Q variant (also known as c.537C>A), located in coding exon 3 of the RAD51C gene, results from a C to A substitution at nucleotide position 537. The histidine at codon 179 is replaced by glutamine, an amino acid with highly similar properties. 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. |
Labcorp Genetics |
RCV000462239 | SCV000550181 | uncertain significance | Fanconi anemia complementation group O | 2024-01-26 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 179 of the RAD51C protein (p.His179Gln). This variant is present in population databases (rs372385738, gnomAD 0.01%). 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: 141532). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Counsyl | RCV000662674 | SCV000785380 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | 2017-07-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000130100 | SCV001343002 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-01 | criteria provided, single submitter | clinical testing | This missense variant replaces histidine with glutamine at codon 179 of the RAD51C protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/251476 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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. |
Myriad Genetics, |
RCV003315885 | SCV004019963 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-04-05 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Gene |
RCV003441750 | SCV004170722 | uncertain significance | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 14704354) |
Baylor Genetics | RCV003315885 | SCV004207929 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 3 | 2024-03-26 | criteria provided, single submitter | clinical testing |