ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.605G>A (p.Gly202Glu)

dbSNP: rs1060500224
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458582 SCV000541887 uncertain significance Neuroblastoma, susceptibility to, 3 2016-12-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ALK-related disease. This sequence change replaces glycine with glutamic acid at codon 202 of the ALK protein (p.Gly202Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003298466 SCV003999710 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-25 criteria provided, single submitter clinical testing The p.G202E variant (also known as c.605G>A), located in coding exon 1 of the ALK gene, results from a G to A substitution at nucleotide position 605. The glycine at codon 202 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration 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.