Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704368 | SCV000833314 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334377 | SCV002636385 | uncertain significance | Cardiovascular phenotype | 2023-10-20 | criteria provided, single submitter | clinical testing | The p.R157C variant (also known as c.469C>T), located in coding exon 2 of the FLNC gene, results from a C to T substitution at nucleotide position 469. The arginine at codon 157 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well 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. |