Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001018449 | SCV001179690 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-12-09 | criteria provided, single submitter | clinical testing | The p.V296A variant (also known as c.887T>C), located in coding exon 7 of the RAD50 gene, results from a T to C substitution at nucleotide position 887. The valine at codon 296 is replaced by alanine, an amino acid with 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. |
| Invitae | RCV001018449 | SCV001209309 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-12 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 822794). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 296 of the RAD50 protein (p.Val296Ala). |