ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) (rs120074139)

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
Invitae RCV001055475 SCV001219869 pathogenic Charcot-Marie-Tooth disease type 4 2019-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg487*) in the SBF2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Charcot Marie Tooth disease in a family (PMID: 15304601). ClinVar contains an entry for this variant (Variation ID: 2912). Loss-of-function variants in SBF2 are known to be pathogenic (PMID: 12687498, 25873783). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003046 SCV000023204 pathogenic Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma 2004-08-10 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790190 SCV000929582 uncertain significance Charcot-Marie-Tooth disease 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.