Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000463528 | SCV000547026 | uncertain significance | Ataxia-telangiectasia syndrome | 2022-11-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 407660). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2870 of the ATM protein (p.Asp2870Asn). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 | RCV002446806 | SCV002679951 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-07 | criteria provided, single submitter | clinical testing | The p.D2870N variant (also known as c.8608G>A), located in coding exon 58 of the ATM gene, results from a G to A substitution at nucleotide position 8608. The aspartic acid at codon 2870 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |