ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2036C>G (p.Pro679Arg)

dbSNP: rs1558648699
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
Invitae RCV000703237 SCV000832129 uncertain significance Neuroblastoma, susceptibility to, 3 2023-08-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALK-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 579853). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 679 of the ALK protein (p.Pro679Arg).
Ambry Genetics RCV003380694 SCV004092486 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-05 criteria provided, single submitter clinical testing The p.P679R variant (also known as c.2036C>G), located in coding exon 11 of the ALK gene, results from a C to G substitution at nucleotide position 2036. The proline at codon 679 is replaced by arginine, an amino acid with dissimilar 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.