Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003833215 | SCV004632737 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-04-28 | 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. 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. This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (rs765309299, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 61 of the ALK protein (p.Pro61Leu). |
| Ambry Genetics | RCV004366853 | SCV005021611 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-02 | criteria provided, single submitter | clinical testing | The p.P61L variant (also known as c.182C>T), located in coding exon 1 of the ALK gene, results from a C to T substitution at nucleotide position 182. The proline at codon 61 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003833215 | SCV005057557 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2024-03-19 | criteria provided, single submitter | clinical testing |