ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4301A>G (p.Glu1434Gly)

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 RCV003002790 SCV003298677 uncertain significance Neuroblastoma, susceptibility to, 3 2022-10-08 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1434 of the ALK protein (p.Glu1434Gly).
Baylor Genetics RCV003002790 SCV005058878 uncertain significance Neuroblastoma, susceptibility to, 3 2024-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004632144 SCV005121165 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-09 criteria provided, single submitter clinical testing The p.E1434G variant (also known as c.4301A>G), located in coding exon 29 of the ALK gene, results from an A to G substitution at nucleotide position 4301. The glutamic acid at codon 1434 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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.