ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4921G>A (p.Val1641Ile)

gnomAD frequency: 0.00010  dbSNP: rs575068215
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 RCV000807427 SCV000947478 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508594 SCV001714856 uncertain significance not provided 2020-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336648 SCV002644495 uncertain significance Cardiovascular phenotype 2022-11-17 criteria provided, single submitter clinical testing The p.V1641I variant (also known as c.4921G>A), located in coding exon 28 of the FLNC gene, results from a G to A substitution at nucleotide position 4921. The valine at codon 1641 is replaced by isoleucine, an amino acid with highly similar 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.
Revvity Omics, Revvity RCV001508594 SCV003833114 uncertain significance not provided 2019-09-27 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.