Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000694461 | SCV000822909 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-12-26 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 832 of the ATM protein (p.Arg832Gly). This variant is not present in population databases (gnomAD no frequency). 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: 572939). 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 tolerated. 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 | RCV001015701 | SCV001176563 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | The p.R832G variant (also known as c.2494C>G), located in coding exon 16 of the ATM gene, results from a C to G substitution at nucleotide position 2494. The arginine at codon 832 is replaced by glycine, an amino acid with dissimilar 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. |
| Baylor Genetics | RCV004569321 | SCV005057080 | uncertain significance | Familial cancer of breast | 2024-01-11 | criteria provided, single submitter | clinical testing |