ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)

dbSNP: rs1858294034
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173567 SCV001336664 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV002509623 SCV002818964 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Reported as a single heterozygous variant of uncertain significance in a patient with Charcot-Marie-Tooth (Volodarsky et al., 2021); 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: 23560007, 32376792)

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.