Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000685037 | SCV000812508 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 15 of the RAD50 protein (p.Phe15Leu). This variant is present in population databases (rs771506747, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 565468). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAD50 protein function. 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. |
| Ambry Genetics | RCV000685037 | SCV002638977 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-08 | criteria provided, single submitter | clinical testing | The p.F15L variant (also known as c.45T>G), located in coding exon 1 of the RAD50 gene, results from a T to G substitution at nucleotide position 45. The phenylalanine at codon 15 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |