Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001237669 | SCV001410441 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-08-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002430014 | SCV002726858 | uncertain significance | Cardiovascular phenotype | 2022-03-03 | criteria provided, single submitter | clinical testing | The p.V747I variant (also known as c.2239G>A), located in coding exon 14 of the FLNC gene, results from a G to A substitution at nucleotide position 2239. The valine at codon 747 is replaced by isoleucine, 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. |
Gene |
RCV003227014 | SCV003923856 | uncertain significance | not provided | 2022-12-12 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |