Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002598868 | SCV003489476 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-03-06 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 84 of the FKTN protein (p.Asn84Ser). This variant is not present in population databases (gnomAD no frequency). |
Ambry Genetics | RCV005335678 | SCV006001195 | uncertain significance | Cardiovascular phenotype | 2025-02-09 | criteria provided, single submitter | clinical testing | The p.N84S variant (also known as c.251A>G), located in coding exon 3 of the FKTN gene, results from an A to G substitution at nucleotide position 251. The asparagine at codon 84 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |