Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000204439 | SCV000260649 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-09-15 | criteria provided, single submitter | clinical testing | In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases and has not been reported in the literature. This sequence change replaces threonine with alanine at codon 54 of the RAD50 protein (p.Thr54Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. |
| Ambry Genetics | RCV000204439 | SCV004003512 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-28 | criteria provided, single submitter | clinical testing | The p.T54A variant (also known as c.160A>G), located in coding exon 2 of the RAD50 gene, results from an A to G substitution at nucleotide position 160. The threonine at codon 54 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. |