Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000353693 | SCV000345104 | uncertain significance | not provided | 2016-09-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001850470 | SCV002109172 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 48 of the FKTN protein (p.Ile48Thr). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 290533). 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 with a negative predictive value of 80%. 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. |
Revvity Omics, |
RCV000353693 | SCV003832698 | uncertain significance | not provided | 2019-06-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372683 | SCV004096174 | uncertain significance | Cardiovascular phenotype | 2023-06-25 | criteria provided, single submitter | clinical testing | The p.I48T variant (also known as c.143T>C), located in coding exon 2 of the FKTN gene, results from a T to C substitution at nucleotide position 143. The isoleucine at codon 48 is replaced by threonine, 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. |