ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.445G>A (p.Gly149Arg) (rs200686690)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594749 SCV000708314 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV000815833 SCV000956306 uncertain significance Walker-Warburg congenital muscular dystrophy 2018-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 149 of the FKTN protein (p.Gly149Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs200686690, ExAC 0.01%). This variant has not been reported in the literature in individuals with FKTN-related disease. ClinVar contains an entry for this variant (Variation ID: 501810). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.