ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.76_78TAC[2] (p.Tyr28del) (rs1554731028)

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 RCV000518924 SCV000618881 uncertain significance not provided 2017-07-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the FKTN gene. The c.82_84delTAC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.82_84delTAC variant is not observed in large population cohorts (Lek et al., 2016). The c.82_84delTAC variant results in an in-frame deletion of a single tyrosine (Y) residue, denoted p.Y28del. This variant occurs at a position that is conserved in mammals. However, in-frame deletions and duplications have not been reported at nearby residues in the Human Gene Mutation Database in association with FKTN-related disorders (Stenson et al., 2014).

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.