Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000566321 | SCV000663787 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-26 | criteria provided, single submitter | clinical testing | The p.T349I variant (also known as c.1046C>T), located in coding exon 9 of the RAD51C gene, results from a C to T substitution at nucleotide position 1046. The threonine at codon 349 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly 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 | RCV000688906 | SCV000816535 | uncertain significance | Fanconi anemia complementation group O | 2023-07-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 480507). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is present in population databases (rs776823687, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 349 of the RAD51C protein (p.Thr349Ile). 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 tolerated. 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. |