Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002000925 | SCV002267855 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with valine at codon 218 of the FKTN protein (p.Glu218Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. 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: "Benign"; Align-GVGD: "Class C35"). 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 | RCV003303574 | SCV004001244 | uncertain significance | Cardiovascular phenotype | 2023-05-27 | criteria provided, single submitter | clinical testing | The p.E218V variant (also known as c.653A>T), located in coding exon 5 of the FKTN gene, results from an A to T substitution at nucleotide position 653. The glutamic acid at codon 218 is replaced by valine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |