Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000706783 | SCV000835853 | uncertain significance | Ataxia-telangiectasia syndrome | 2019-10-28 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ATM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 2868 of the ATM protein (p.Leu2868Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |
| Ambry Genetics | RCV003353001 | SCV004054031 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-26 | criteria provided, single submitter | clinical testing | The p.L2868V variant (also known as c.8602C>G), located in coding exon 58 of the ATM gene, results from a C to G substitution at nucleotide position 8602. The leucine at codon 2868 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |