Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000561919 | SCV000672703 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-10-07 | criteria provided, single submitter | clinical testing | The p.C2835Y variant (also known as c.8504G>A), located in coding exon 57 of the ATM gene, results from a G to A substitution at nucleotide position 8504. The cysteine at codon 2835 is replaced by tyrosine, 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 |
RCV002526903 | SCV003317606 | uncertain significance | Ataxia-telangiectasia syndrome | 2022-03-04 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 485223). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs759655842, gnomAD 0.006%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 2835 of the ATM protein (p.Cys2835Tyr). |