Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815107 | SCV000955551 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363124 | SCV002664365 | uncertain significance | Cardiovascular phenotype | 2022-06-14 | criteria provided, single submitter | clinical testing | The p.R2318Q variant (also known as c.6953G>A), located in coding exon 41 of the FLNC gene, results from a G to A substitution at nucleotide position 6953. The arginine at codon 2318 is replaced by glutamine, an amino acid with highly similar properties. 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. |
Gene |
RCV003127475 | SCV003803447 | uncertain significance | not provided | 2022-08-12 | criteria provided, single submitter | clinical testing | Identified in a patient with frontotemporal dementia in published literature (Janssens et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26555887) |