Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000628055 | SCV000748943 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-04-14 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 524342). 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 serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 788 of the ATM protein (p.Ser788Asn). |
| Ambry Genetics | RCV002448917 | SCV002734535 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | The p.S788N variant (also known as c.2363G>A), located in coding exon 14 of the ATM gene, results from a G to A substitution at nucleotide position 2363. The serine at codon 788 is replaced by asparagine, an amino acid with highly 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235317 | SCV003934611 | uncertain significance | not specified | 2023-05-06 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003317303 | SCV004021732 | uncertain significance | not provided | 2023-01-24 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Baylor Genetics | RCV004568346 | SCV005057031 | uncertain significance | Familial cancer of breast | 2024-02-01 | criteria provided, single submitter | clinical testing |