ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.412A>G (p.Met138Val)

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 RCV001322711 SCV001513597 uncertain significance Charcot-Marie-Tooth disease type 4 2018-06-06 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FGD4 mRNA. The next in-frame methionine is located at codon 94. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FGD4-related disease. 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.