ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val)

dbSNP: rs780658670
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246488 SCV001419846 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002366082 SCV002666322 uncertain significance Cardiovascular phenotype 2021-03-23 criteria provided, single submitter clinical testing The p.E2270V variant (also known as c.6809A>T), located in coding exon 41 of the FLNC gene, results from an A to T substitution at nucleotide position 6809. The glutamic acid at codon 2270 is replaced by valine, an amino acid with dissimilar properties. 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.
Revvity Omics, Revvity RCV003145486 SCV003833101 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing
GeneDx RCV003145486 SCV004036852 uncertain significance not provided 2023-09-20 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.