Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001012725 | SCV001173214 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-08 | criteria provided, single submitter | clinical testing | The p.N562I variant (also known as c.1685A>T), located in coding exon 10 of the ATM gene, results from an A to T substitution at nucleotide position 1685. The asparagine at codon 562 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is poorly 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. |
| Labcorp Genetics |
RCV001051014 | SCV001215147 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-03-23 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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: 819830). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 562 of the ATM protein (p.Asn562Ile). |