Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001223216 | SCV001395355 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-05-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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: 951333). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1034 of the ALK protein (p.Ser1034Leu). |
| Ambry Genetics | RCV004619566 | SCV005120998 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-20 | criteria provided, single submitter | clinical testing | The p.S1034L variant (also known as c.3101C>T), located in coding exon 19 of the ALK gene, results from a C to T substitution at nucleotide position 3101. The serine at codon 1034 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |