Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003118519 | SCV003786703 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-07-17 | 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 2419994). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs752121828, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 2684 of the ATM protein (p.Gln2684His). |
| Ambry Genetics | RCV004673838 | SCV005167902 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-01 | criteria provided, single submitter | clinical testing | The p.Q2684H variant (also known as c.8052G>C), located in coding exon 54 of the ATM gene, results from a G to C substitution at nucleotide position 8052. The glutamine at codon 2684 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |