ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser)

dbSNP: rs1587865923
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
Invitae RCV000794083 SCV000933469 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 10 of the FKTN protein (p.Leu10Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. 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 disruptive. 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.
Natera, Inc. RCV000794083 SCV002078734 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-06-11 no assertion criteria provided clinical testing

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.