ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1176C>G (p.Tyr392Ter) (rs1203741361)

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
GeneDx RCV000760536 SCV000890427 likely pathogenic not provided 2018-02-22 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the FKTN gene. The Y392X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y392X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The Y392X variant is a nonsense variant in the C-terminus predicted to result in protein truncation, as the last 70 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014). A different nucleotide change (c.1176C>A) resulting in the same nonsense change has been reported as pathogenic in the published literature in association with Walker-Warburg syndrome (Manzini et al., 2008). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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.