Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649136 | SCV000770961 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388126 | SCV002669800 | uncertain significance | Cardiovascular phenotype | 2023-05-11 | criteria provided, single submitter | clinical testing | The p.R2495H variant (also known as c.7484G>A), located in coding exon 45 of the FLNC gene, results from a G to A substitution at nucleotide position 7484. The arginine at codon 2495 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a cardiomyopathy cohort (Ader F et al. Clin Genet, 2019 Oct;96:317-329). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV003480738 | SCV004224110 | uncertain significance | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | PP3, PS4_supporting |