Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000693748 | SCV000821629 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-08-28 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV003144523 | SCV003833191 | uncertain significance | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004025164 | SCV005017744 | uncertain significance | Cardiovascular phenotype | 2024-01-02 | criteria provided, single submitter | clinical testing | The p.V1916M variant (also known as c.5746G>A), located in coding exon 35 of the FLNC gene, results from a G to A substitution at nucleotide position 5746. The valine at codon 1916 is replaced by methionine, an amino acid with highly similar properties. This variant has been detected in an individual with restrictive cardiomyopathy (Ware SM et al. Am J Hum Genet, 2022 Feb;109:282-298). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |