Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000813558 | SCV000953922 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-02-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1494 of the FLNC protein (p.Arg1494Gln). ClinVar contains an entry for this variant (Variation ID: 657016). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. |
| Ambry Genetics | RCV004994042 | SCV005588278 | uncertain significance | Cardiovascular phenotype | 2024-09-08 | criteria provided, single submitter | clinical testing | The p.R1494Q variant (also known as c.4481G>A), located in coding exon 26 of the FLNC gene, results from a G to A substitution at nucleotide position 4481. The arginine at codon 1494 is replaced by glutamine, 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. |