Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002320507 | SCV002607937 | uncertain significance | Cardiovascular phenotype | 2023-12-07 | criteria provided, single submitter | clinical testing | The p.T1041S variant (also known as c.3122C>G), located in coding exon 20 of the FLNC gene, results from a C to G substitution at nucleotide position 3122. The threonine at codon 1041 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003775049 | SCV004580658 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-09 | criteria provided, single submitter | clinical testing |