ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys)

dbSNP: rs119103219
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 RCV000557643 SCV000644149 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2018-03-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 99 of the MCCC2 protein (p.Glu99Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MCCC2-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). A different missense substitution at this codon (p.Glu99Gln) has been reported in individuals affected with 3MCC deficiency (PMID: 16010683, 11181649). 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.

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.