ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1673G>T (p.Arg558Leu)

dbSNP: rs776881635
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 RCV001037813 SCV001201245 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400224 SCV002706162 uncertain significance Cardiovascular phenotype 2024-03-05 criteria provided, single submitter clinical testing The p.R558L variant (also known as c.1673G>T), located in coding exon 10 of the FLNC gene, results from a G to T substitution at nucleotide position 1673. The arginine at codon 558 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145261 SCV003833139 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing

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.