Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000223115 | SCV000273695 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-30 | criteria provided, single submitter | clinical testing | The p.P2907R variant (also known as c.8720C>G), located in coding exon 59 of the ATM gene, results from a C to G substitution at nucleotide position 8720. The proline at codon 2907 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Labcorp Genetics |
RCV000810150 | SCV000950340 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2907 of the ATM protein (p.Pro2907Arg). This variant is present in population databases (rs56887719, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 230230). 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. 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. |