Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002399274 | SCV002713302 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-16 | criteria provided, single submitter | clinical testing | The p.R579S variant (also known as c.1737G>T), located in coding exon 9 of the ALK gene, results from a G to T substitution at nucleotide position 1737. The arginine at codon 579 is replaced by serine, an amino acid with dissimilar 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. |
| Labcorp Genetics |
RCV003517421 | SCV004335805 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-08-02 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1779112). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (rs373833989, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 579 of the ALK protein (p.Arg579Ser). 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. 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. |