Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001018107 | SCV001179294 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-30 | criteria provided, single submitter | clinical testing | The p.I2878L variant (also known as c.8632A>C), located in coding exon 58 of the ATM gene, results from an A to C substitution at nucleotide position 8632. The isoleucine at codon 2878 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly 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. |
| Labcorp Genetics |
RCV001047993 | SCV001211981 | uncertain significance | Ataxia-telangiectasia syndrome | 2022-10-24 | 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. 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 C0"). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 822616). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2878 of the ATM protein (p.Ile2878Leu). |