Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042008 | SCV001205666 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445234 | SCV002733586 | uncertain significance | Cardiovascular phenotype | 2024-03-01 | criteria provided, single submitter | clinical testing | The p.S78R variant (also known as c.232A>C), located in coding exon 1 of the FLNC gene, results from an A to C substitution at nucleotide position 232. The serine at codon 78 is replaced by arginine, an amino acid with dissimilar properties. 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. |