ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.2377-10T>A (rs9481005)

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
Invitae RCV000537556 SCV000657859 uncertain significance Charcot-Marie-Tooth disease type 4 2019-11-12 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the FIG4 gene. It does not directly change the encoded amino acid sequence of the FIG4 protein. This variant is present in population databases (rs9481005, ExAC 0.002%). This variant has been reported in a study of individuals affected with amyotrophic lateral sclerosis (PMID: 23336365). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. 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.