Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649110 | SCV000770935 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002397288 | SCV002708631 | uncertain significance | Cardiovascular phenotype | 2021-03-31 | criteria provided, single submitter | clinical testing | The p.S5R variant (also known as c.15C>A), located in coding exon 1 of the FLNC gene, results from a C to A substitution at nucleotide position 15. The serine at codon 5 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available 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. |