Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002344486 | SCV002644757 | uncertain significance | Cardiovascular phenotype | 2022-03-08 | criteria provided, single submitter | clinical testing | The p.P1763T variant (also known as c.5287C>A), located in coding exon 31 of the FLNC gene, results from a C to A substitution at nucleotide position 5287. The proline at codon 1763 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. 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 | RCV003776082 | SCV004575332 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-15 | criteria provided, single submitter | clinical testing |