Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560801 | SCV000622552 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with lysine at codon 1660 of the ATM protein (p.Asn1660Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs144338238, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 453550). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Mendelics | RCV000560801 | SCV000838549 | uncertain significance | Ataxia-telangiectasia syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341238 | SCV002643494 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-15 | criteria provided, single submitter | clinical testing | The p.N1660K variant (also known as c.4980C>A), located in coding exon 32 of the ATM gene, results from a C to A substitution at nucleotide position 4980. The asparagine at codon 1660 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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 | RCV003470671 | SCV004210164 | uncertain significance | Familial cancer of breast | 2023-07-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000560801 | SCV002078362 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-08-11 | no assertion criteria provided | clinical testing |