Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000572398 | SCV000665626 | uncertain significance | Hereditary cancer-predisposing syndrome | 2025-01-23 | criteria provided, single submitter | clinical testing | The p.R184G variant (also known as c.550A>G), located in coding exon 5 of the ATM gene, results from an A to G substitution at nucleotide position 550. The arginine at codon 184 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Labcorp Genetics |
RCV001858172 | SCV002251965 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glycine at codon 184 of the ATM protein (p.Arg184Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC 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: 481315). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. 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. |
| Center for Genomic Medicine, |
RCV004596271 | SCV005089948 | uncertain significance | not specified | 2025-03-04 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV004820057 | SCV005440773 | uncertain significance | not provided | 2024-06-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Fulgent Genetics, |
RCV005044843 | SCV005681183 | uncertain significance | Familial cancer of breast; Ataxia-telangiectasia syndrome | 2024-03-16 | criteria provided, single submitter | clinical testing |