Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002039042 | SCV002314559 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331649 | SCV002631144 | uncertain significance | Cardiovascular phenotype | 2024-05-02 | criteria provided, single submitter | clinical testing | The p.R1460Q variant (also known as c.4379G>A), located in coding exon 25 of the FLNC gene, results from a G to A substitution at nucleotide position 4379. The arginine at codon 1460 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |