Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000647471 | SCV000769267 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-09-10 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 538262). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 94 of the ALK protein (p.Asp94Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALK-related conditions. 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 | RCV002440336 | SCV002749241 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-10 | criteria provided, single submitter | clinical testing | The p.D94Y variant (also known as c.280G>T), located in coding exon 1 of the ALK gene, results from a G to T substitution at nucleotide position 280. The aspartic acid at codon 94 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV000647471 | SCV004197842 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-10-17 | criteria provided, single submitter | clinical testing |