Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000563287 | SCV000668063 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-28 | criteria provided, single submitter | clinical testing | The p.A20T variant (also known as c.58G>A), located in coding exon 1 of the ATM gene, results from a G to A substitution at nucleotide position 58. The alanine at codon 20 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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. |
| Labcorp Genetics |
RCV001055893 | SCV001220307 | uncertain significance | Ataxia-telangiectasia syndrome | 2019-11-20 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 20 of the ATM protein (p.Ala20Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 482688). This variant is not present in population databases (ExAC no frequency). |