Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001211068 | SCV001382590 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-07-03 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 2947 of the ATM protein (p.Thr2947Ser). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 941310). 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 | RCV003163604 | SCV003868805 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-03 | criteria provided, single submitter | clinical testing | The p.T2947S variant (also known as c.8839A>T), located in coding exon 60 of the ATM gene, results from an A to T substitution at nucleotide position 8839. The threonine at codon 2947 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |