Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001026833 | SCV001189293 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-24 | criteria provided, single submitter | clinical testing | The p.N2603D variant (also known as c.7807A>G), located in coding exon 52 of the ATM gene, results from an A to G substitution at nucleotide position 7807. The asparagine at codon 2603 is replaced by aspartic acid, an amino acid with highly 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. |
| Labcorp Genetics |
RCV003605727 | SCV004434201 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-01-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 827268). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 2603 of the ATM protein (p.Asn2603Asp). |