ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)

dbSNP: rs2135485868
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265063 SCV002546691 pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34140661)
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468655 SCV002764978 pathogenic Microcytic anemia; 3-Methylglutaric aciduria; 3-Methylglutaconic aciduria; Myeloid maturation arrest 2020-11-13 criteria provided, single submitter clinical testing
OMIM RCV002221966 SCV002499264 pathogenic 3-methylglutaconic aciduria, type VIIB 2022-08-11 no assertion criteria provided literature only

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.