Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546923 | SCV000651144 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377137 | SCV002667998 | uncertain significance | Cardiovascular phenotype | 2021-11-15 | criteria provided, single submitter | clinical testing | The p.R2326Q variant (also known as c.6977G>A), located in coding exon 41 of the FLNC gene, results from a G to A substitution at nucleotide position 6977. The arginine at codon 2326 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |