Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000220862 | SCV000276657 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-16 | criteria provided, single submitter | clinical testing | The p.C2930G variant (also known as c.8788T>G), located in coding exon 60 of the ATM gene, results from a T to G substitution at nucleotide position 8788. The cysteine at codon 2930 is replaced by glycine, 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. |
| Labcorp Genetics |
RCV000628156 | SCV000749049 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with glycine at codon 2930 of the ATM protein (p.Cys2930Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 232504). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |