ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4486A>G (p.Arg1496Gly)

dbSNP: rs1378185030
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880341 SCV002127102 uncertain significance Neuroblastoma, susceptibility to, 3 2022-09-07 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1356066). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1496 of the ALK protein (p.Arg1496Gly).
Baylor Genetics RCV001880341 SCV005059775 uncertain significance Neuroblastoma, susceptibility to, 3 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004631761 SCV005127260 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-10 criteria provided, single submitter clinical testing The p.R1496G variant (also known as c.4486A>G), located in coding exon 29 of the ALK gene, results from an A to G substitution at nucleotide position 4486. The arginine at codon 1496 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.