Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000222517 | SCV000276108 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | The p.L263F variant (also known as c.787C>T), located in coding exon 6 of the ATM gene, results from a C to T substitution at nucleotide position 787. The leucine at codon 263 is replaced by phenylalanine, an amino acid with highly similar properties. This alteration has been reported in 1/1197 individuals from Greece, Romania, and Turkey undergoing evaluation for inherited cancer predisposition (Tsaousis GN et al. BMC Cancer, 2019 Jun;19:535). This amino acid position is well conserved in available vertebrate species. 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. |
| Color Diagnostics, |
RCV000222517 | SCV000687799 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-06 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000222517 | SCV000821875 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001226805 | SCV001399131 | uncertain significance | Ataxia-telangiectasia syndrome | 2022-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 263 of the ATM protein (p.Leu263Phe). This variant is not present in population databases (gnomAD no frequency). 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: 232065). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. |
| Baylor Genetics | RCV004567589 | SCV005056937 | uncertain significance | Familial cancer of breast | 2024-02-28 | criteria provided, single submitter | clinical testing | |
| Institute of Immunology and Genetics Kaiserslautern | RCV004668857 | SCV005093865 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2024-07-09 | criteria provided, single submitter | clinical testing | ACMG Criteria: PM2_p, BP5; Variant was found in heterozygous state |