ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)

gnomAD frequency: 0.00004  dbSNP: rs759075520
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554572 SCV000650890 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001755874 SCV001996316 uncertain significance not provided 2019-09-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in one individual from a control cohort (Gomez et al., 2017); This variant is associated with the following publications: (PMID: 28356264)
Ambry Genetics RCV002448759 SCV002679373 uncertain significance Cardiovascular phenotype 2022-08-16 criteria provided, single submitter clinical testing The p.R421W variant (also known as c.1261C>T), located in coding exon 8 of the FLNC gene, results from a C to T substitution at nucleotide position 1261. The arginine at codon 421 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration was reported in one ostensibly healthy individual (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:). This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV002491076 SCV002785013 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-12-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001755874 SCV003833179 uncertain significance not provided 2020-02-28 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.