Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000698510 | SCV000827178 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-07-28 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2359 of the ATM protein (p.Thr2359Asn). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 576097). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV001026008 | SCV001188308 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-02 | criteria provided, single submitter | clinical testing | The p.T2359N variant (also known as c.7076C>A), located in coding exon 47 of the ATM gene, results from a C to A substitution at nucleotide position 7076. The threonine at codon 2359 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well conserved in 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. |
| Baylor Genetics | RCV003465605 | SCV004210091 | uncertain significance | Familial cancer of breast | 2023-08-03 | criteria provided, single submitter | clinical testing |