Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540690 | SCV000651089 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358572 | SCV002652112 | uncertain significance | Cardiovascular phenotype | 2020-05-27 | criteria provided, single submitter | clinical testing | The p.Y1926C variant (also known as c.5777A>G), located in coding exon 35 of the FLNC gene, results from an A to G substitution at nucleotide position 5777. The tyrosine at codon 1926 is replaced by cysteine, an amino acid with highly 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. |