ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.65A>G (p.Gln22Arg)

dbSNP: rs1570877514
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 RCV000815786 SCV000956258 uncertain significance RASopathy 2018-11-04 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has been observed in an individual with clinical features of Noonan syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 22 of the NRAS protein (p.Gln22Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.
GeneDx RCV004777892 SCV005391968 uncertain significance not provided 2024-04-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.