ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro)

dbSNP: rs1833923288
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
Invitae RCV001071609 SCV001236920 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 399 of the FKTN protein (p.Leu399Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002339349 SCV002640601 uncertain significance Cardiovascular phenotype 2019-10-02 criteria provided, single submitter clinical testing The p.L399P variant (also known as c.1196T>C), located in coding exon 9 of the FKTN gene, results from a T to C substitution at nucleotide position 1196. The leucine at codon 399 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001071609 SCV002081977 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-01-20 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.