Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215055 | SCV001386775 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-11 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486966 | SCV004240654 | uncertain significance | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004033953 | SCV005017788 | uncertain significance | Cardiovascular phenotype | 2023-09-22 | criteria provided, single submitter | clinical testing | The p.R183C variant (also known as c.547C>T), located in coding exon 2 of the FLNC gene, results from a C to T substitution at nucleotide position 547. The arginine at codon 183 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported in a hypertrophic cardiomyopathy (HCM) cohort; however, clinical details were limited (Cui H et al. Mol Genet Genomic Med, 2018 Nov;6:1104-1113). This amino acid position is 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. |