Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001320649 | SCV001511444 | uncertain significance | Ataxia-telangiectasia syndrome | 2020-06-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with ATM-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with arginine at codon 2333 of the ATM protein (p.Thr2333Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine. |
| Ambry Genetics | RCV002366183 | SCV002665401 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-23 | criteria provided, single submitter | clinical testing | The p.T2333R variant (also known as c.6998C>G), located in coding exon 47 of the ATM gene, results from a C to G substitution at nucleotide position 6998. The threonine at codon 2333 is replaced by arginine, 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. |