Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002439641 | SCV002747221 | uncertain significance | Cardiovascular phenotype | 2022-10-09 | criteria provided, single submitter | clinical testing | The p.D925V variant (also known as c.2774A>T), located in coding exon 18 of the FLNC gene, results from an A to T substitution at nucleotide position 2774. The aspartic acid at codon 925 is replaced by valine, an amino acid with highly 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. |
Invitae | RCV003102198 | SCV002987669 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-04-08 | criteria provided, single submitter | clinical testing |