Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001351237 | SCV001545687 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001773705 | SCV001992452 | uncertain significance | not provided | 2022-08-30 | criteria provided, single submitter | clinical testing | Reported in association with HCM (Cui et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30411535, 32112656) |
Ambry Genetics | RCV002438815 | SCV002747774 | uncertain significance | Cardiovascular phenotype | 2021-12-06 | criteria provided, single submitter | clinical testing | The p.E913K variant (also known as c.2737G>A), located in coding exon 18 of the FLNC gene, results from a G to A substitution at nucleotide position 2737. The glutamic acid at codon 913 is replaced by lysine, an amino acid with similar properties. This variant has been detected in an individual from a hypertrophic cardiomyopathy cohort; however, details were limited (Cui H et al. Mol Genet Genomic Med, 2018 11;6:1104-1113). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002476615 | SCV002785291 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-08-20 | criteria provided, single submitter | clinical testing |