Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000811573 | SCV000951846 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-06-07 | criteria provided, single submitter | clinical testing | 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: 655402). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 1114 of the ATM protein (p.Lys1114Met). |
| Ambry Genetics | RCV002325584 | SCV002606641 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-04 | criteria provided, single submitter | clinical testing | The p.K1114M variant (also known as c.3341A>T), located in coding exon 22 of the ATM gene, results from an A to T substitution at nucleotide position 3341. The lysine at codon 1114 is replaced by methionine, 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 | RCV003467455 | SCV004209456 | uncertain significance | Familial cancer of breast | 2023-09-13 | criteria provided, single submitter | clinical testing |