Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001035706 | SCV001199040 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-04-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ATM-related conditions. 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: 834922). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2045 of the ATM protein (p.Ala2045Thr). |
| Gene |
RCV001759933 | SCV002000911 | uncertain significance | not provided | 2022-04-21 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: Pardo2021[Thesis], 23532176) |
| Ambry Genetics | RCV002354975 | SCV002654431 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-28 | criteria provided, single submitter | clinical testing | The p.A2045T variant (also known as c.6133G>A), located in coding exon 41 of the ATM gene, results from a G to A substitution at nucleotide position 6133. The alanine at codon 2045 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004570093 | SCV005057023 | uncertain significance | Familial cancer of breast | 2024-02-03 | criteria provided, single submitter | clinical testing |