ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) (rs750069994)

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
Inherited Neuropathy Consortium RCV000789119 SCV000928470 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Invitae RCV000539413 SCV000657865 uncertain significance Charcot-Marie-Tooth disease type 4 2017-07-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FIG4 gene (p.Arg899*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 9 amino acids of the FIG4 protein. This variant is present in population databases (rs750069994, ExAC 0.005%). This variant has been reported in an individual affected with Charcot-Marie-Tooth disease type 4J, however it is unclear if a second variant was identified (PMID: 21705420). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.