Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699223 | SCV000827924 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360787 | SCV002658026 | uncertain significance | Cardiovascular phenotype | 2021-04-21 | criteria provided, single submitter | clinical testing | The p.N212S variant (also known as c.635A>G), located in coding exon 3 of the FLNC gene, results from an A to G substitution at nucleotide position 635. The asparagine at codon 212 is replaced by serine, an amino acid with highly 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. |