Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532655 | SCV000650994 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456216 | SCV002615840 | uncertain significance | Cardiovascular phenotype | 2022-08-30 | criteria provided, single submitter | clinical testing | The p.A1208T variant (also known as c.3622G>A), located in coding exon 21 of the FLNC gene, results from a G to A substitution at nucleotide position 3622. The alanine at codon 1208 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available 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. |