ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.759del (p.Phe254fs) (rs764717219)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517693 SCV000613305 pathogenic not provided 2017-02-14 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789114 SCV000928465 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Invitae RCV000533386 SCV000657870 pathogenic Charcot-Marie-Tooth disease type 4 2018-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe254Serfs*8) in the FIG4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764717219, ExAC 0.009%). This variant has been reported in individuals affected with autosomal recessive Charcot-Marie-Tooth disease (PMID: 17572665, 21705420). Loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001795 SCV000021951 pathogenic Charcot-Marie-Tooth disease, type 4J 2007-07-05 no assertion criteria provided literature only
Weber Lab,Hannover Medical School RCV000416492 SCV000299295 pathogenic Amyotrophic lateral sclerosis type 11 2016-09-13 criteria provided, single submitter research

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.