Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000537957 | SCV000622423 | uncertain significance | Ataxia-telangiectasia syndrome | 2017-06-21 | criteria provided, single submitter | clinical testing | In summary, this variant has uncertain impact on ATM function. The available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). This variant has not been reported in the literature in individuals with a ATM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 1149 of the ATM protein (p.Asn1149Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. |
Ambry Genetics | RCV001020322 | SCV001181786 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-28 | criteria provided, single submitter | clinical testing | The p.N1149S variant (also known as c.3446A>G), located in coding exon 23 of the ATM gene, results from an A to G substitution at nucleotide position 3446. The asparagine at codon 1149 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly 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. |
Natera, |
RCV000537957 | SCV002080418 | uncertain significance | Ataxia-telangiectasia syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |