ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4379G>A (p.Arg1460Gln)

gnomAD frequency: 0.00001  dbSNP: rs773716930
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002039042 SCV002314559 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331649 SCV002631144 uncertain significance Cardiovascular phenotype 2021-09-21 criteria provided, single submitter clinical testing The p.R1460Q variant (also known as c.4379G>A), located in coding exon 25 of the FLNC gene, results from a G to A substitution at nucleotide position 4379. The arginine at codon 1460 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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.