Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001020738 | SCV001182251 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-03-23 | criteria provided, single submitter | clinical testing | The p.E1207Q variant (also known as c.3619G>C), located in coding exon 24 of the ATM gene, results from a G to C substitution at nucleotide position 3619. The glutamic acid at codon 1207 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved through reptiles but not in all 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. |
| Invitae | RCV001860996 | SCV002168537 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1207 of the ATM protein (p.Glu1207Gln). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 823997). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs772724024, gnomAD 0.01%). |