Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000459331 | SCV000541833 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 667 of the ALK protein (p.Gly667Arg). This variant is present in population databases (rs539763601, gnomAD 0.03%). 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: 404326). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Fulgent Genetics, |
RCV000459331 | SCV000897002 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000459331 | SCV001482603 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2019-07-04 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |