ClinVar Miner

Submissions for variant NM_002168.4(IDH2):c.646G>A (p.Gly216Ser)

gnomAD frequency: 0.00001  dbSNP: rs370851685
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925232 SCV002171288 uncertain significance D-2-hydroxyglutaric aciduria 2 2021-04-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 216 of the IDH2 protein (p.Gly216Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant has not been reported in the literature in individuals with IDH2-related conditions. This variant is present in population databases (rs370851685, ExAC 0.01%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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.