Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020183 | SCV001181627 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-05 | criteria provided, single submitter | clinical testing | The p.R1132G variant (also known as c.3394A>G), located in coding exon 22 of the ATM gene, results from an A to G substitution at nucleotide position 3394. The arginine at codon 1132 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not 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. |
Invitae | RCV001873329 | SCV002304976 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-02-18 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glycine at codon 1132 of the ATM protein (p.Arg1132Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. 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. 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. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 823716). This variant is not present in population databases (ExAC no frequency). |
Gene |
RCV002272387 | SCV002558490 | uncertain significance | not provided | 2022-01-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Athena Diagnostics Inc | RCV002272387 | SCV002771793 | uncertain significance | not provided | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003467655 | SCV004210293 | uncertain significance | Familial cancer of breast | 2023-06-06 | criteria provided, single submitter | clinical testing |