Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001943200 | SCV002179120 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-03-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with ATM-related conditions. 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 is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 1125 of the ATM protein (p.Leu1125Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. |
| Ambry Genetics | RCV004671522 | SCV005168376 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-23 | criteria provided, single submitter | clinical testing | The p.L1125V variant (also known as c.3373T>G), located in coding exon 22 of the ATM gene, results from a T to G substitution at nucleotide position 3373. The leucine at codon 1125 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |