ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003114772 SCV003785221 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 279 of the FKTN protein (p.Glu279Gly). This variant is present in population databases (rs760534318, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FKTN protein function. 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.
Ambry Genetics RCV003162136 SCV003857380 uncertain significance Cardiovascular phenotype 2022-12-11 criteria provided, single submitter clinical testing The p.E279G variant (also known as c.836A>G), located in coding exon 6 of the FKTN gene, results from an A to G substitution at nucleotide position 836. The glutamic acid at codon 279 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.