ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg)

gnomAD frequency: 0.00001  dbSNP: rs149085844
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000546620 SCV000630812 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 352 of the FKTN protein (p.Ser352Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs149085844, ExAC 0.005%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV004023803 SCV005037351 uncertain significance Cardiovascular phenotype 2024-02-06 criteria provided, single submitter clinical testing The p.S352R variant (also known as c.1056C>G), located in coding exon 8 of the FKTN gene, results from a C to G substitution at nucleotide position 1056. The serine at codon 352 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000546620 SCV002081964 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-01-14 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.