ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.547C>T (p.Arg183Cys)

gnomAD frequency: 0.00004  dbSNP: rs369221655
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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, Children's Hospital of Eastern Ontario 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.