ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5477A>G (p.Tyr1826Cys)

gnomAD frequency: 0.00004  dbSNP: rs756197388
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 RCV001048238 SCV001212230 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348384 SCV002651209 uncertain significance Cardiovascular phenotype 2023-04-13 criteria provided, single submitter clinical testing The p.Y1826C variant (also known as c.5477A>G), located in coding exon 33 of the FLNC gene, results from an A to G substitution at nucleotide position 5477. The tyrosine at codon 1826 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003128739 SCV003805795 uncertain significance not provided 2023-02-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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.