Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001024863 | SCV001186950 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-27 | criteria provided, single submitter | clinical testing | The p.K2025N variant (also known as c.6075G>T), located in coding exon 40 of the ATM gene, results from a G to T substitution at nucleotide position 6075. The lysine at codon 2025 is replaced by asparagine, an amino acid with similar 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. |
| Labcorp Genetics |
RCV001244459 | SCV001417679 | uncertain significance | Ataxia-telangiectasia syndrome | 2019-10-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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. 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: "Benign"; Align-GVGD: "Class C35"). This variant has not been reported in the literature in individuals with ATM-related conditions. This sequence change replaces lysine with asparagine at codon 2025 of the ATM protein (p.Lys2025Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. |