Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002366728 | SCV002660125 | uncertain significance | Cardiovascular phenotype | 2021-07-09 | criteria provided, single submitter | clinical testing | The p.C2088R variant (also known as c.6262T>C), located in coding exon 38 of the FLNC gene, results from a T to C substitution at nucleotide position 6262. The cysteine at codon 2088 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is well 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. |
Invitae | RCV003103283 | SCV003501888 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-04 | criteria provided, single submitter | clinical testing |