Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003076981 | SCV003455895 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2024-03-09 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1091 of the ALK protein (p.Asp1091Gly). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 2147031). 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. |
| Ambry Genetics | RCV004070418 | SCV005021641 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-05 | criteria provided, single submitter | clinical testing | The p.D1091G variant (also known as c.3272A>G), located in coding exon 20 of the ALK gene, results from an A to G substitution at nucleotide position 3272. The aspartic acid at codon 1091 is replaced by glycine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |