Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000537750 | SCV000622759 | uncertain significance | Ataxia-telangiectasia syndrome | 2022-11-03 | 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. 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"). ClinVar contains an entry for this variant (Variation ID: 453693). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 2522 of the ATM protein (p.Gln2522His). |
| Ambry Genetics | RCV000563607 | SCV000660675 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-20 | criteria provided, single submitter | clinical testing | The p.Q2522H variant (also known as c.7566A>T), located in coding exon 50 of the ATM gene, results from an A to T substitution at nucleotide position 7566. The glutamine at codon 2522 is replaced by histidine, 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. Based on the available evidence, the clinical significance of this variant remains unclear. |