Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000628049 | SCV000748937 | uncertain significance | Ataxia-telangiectasia syndrome | 2017-10-31 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with valine at codon 922 of the ATM protein (p.Asp922Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 | RCV002438615 | SCV002752270 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-02 | criteria provided, single submitter | clinical testing | The p.D922V variant (also known as c.2765A>T), located in coding exon 17 of the ATM gene, results from an A to T substitution at nucleotide position 2765. The aspartic acid at codon 922 is replaced by valine, an amino acid with highly dissimilar 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. |