ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.397A>G (p.Met133Val) (rs569778463)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000357115 SCV000476421 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264741 SCV000476422 uncertain significance Fukuyama congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000634069 SCV000755347 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-05-18 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 133 of the FKTN protein (p.Met133Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs569778463, ExAC 0.2%). This variant has not been reported in the literature in individuals with FKTN-related disease. 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. A different missense substitution at this codon (p.Met133Thr) has been reported in an individual affected with Fukuyama-type congenital muscular dystrophy (PMID: 17597323). 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.