Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001205693 | SCV001376962 | uncertain significance | Ataxia-telangiectasia syndrome | 2022-03-03 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 936810). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs772555314, gnomAD 0.003%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1472 of the ATM protein (p.Leu1472Ser). |
| Ambry Genetics | RCV004671251 | SCV005168249 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-19 | criteria provided, single submitter | clinical testing | The p.L1472S variant (also known as c.4415T>C), located in coding exon 28 of the ATM gene, results from a T to C substitution at nucleotide position 4415. The leucine at codon 1472 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |