Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003086819 | SCV003482903 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004073221 | SCV005018235 | uncertain significance | Cardiovascular phenotype | 2023-02-28 | criteria provided, single submitter | clinical testing | The p.R2140W variant (also known as c.6418C>T), located in coding exon 39 of the FLNC gene, results from a C to T substitution at nucleotide position 6418. The arginine at codon 2140 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |