Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002046153 | SCV002310377 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2021-09-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ALK-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces leucine with isoleucine at codon 9 of the ALK protein (p.Leu9Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |