Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002026227 | SCV002302467 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2024-11-12 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1203 of the ALK protein (p.Asp1203Asn). This variant is present in population databases (rs759845895, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1513564). 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 tolerated. 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. |
| Ambry Genetics | RCV002458995 | SCV002617581 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-16 | criteria provided, single submitter | clinical testing | The p.D1203N variant (also known as c.3607G>A), located in coding exon 23 of the ALK gene, results from a G to A substitution at nucleotide position 3607. The aspartic acid at codon 1203 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Molekularpathologisches Zentrum, |
RCV002282682 | SCV002571106 | likely pathogenic | Lung cancer | no assertion criteria provided | clinical testing |