Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000647390 | SCV000769186 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-06-09 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs190639819, gnomAD 0.003%). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 538188). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1590 of the ALK protein (p.Gly1590Ser). |
| Ambry Genetics | RCV003303053 | SCV003998365 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-26 | criteria provided, single submitter | clinical testing | The p.G1590S variant (also known as c.4768G>A), located in coding exon 29 of the ALK gene, results from a G to A substitution at nucleotide position 4768. The glycine at codon 1590 is replaced by serine, an amino acid with 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. |