Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002385139 | SCV002670338 | uncertain significance | Cardiovascular phenotype | 2022-07-23 | criteria provided, single submitter | clinical testing | The p.I2487V variant (also known as c.7459A>G), located in coding exon 45 of the FLNC gene, results from an A to G substitution at nucleotide position 7459. The isoleucine at codon 2487 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in a few of the vertebrate species. 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. |
Invitae | RCV003099643 | SCV003489033 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-08-24 | criteria provided, single submitter | clinical testing |