ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)

gnomAD frequency: 0.00001  dbSNP: rs746183882
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 RCV001301248 SCV001490412 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-05-15 criteria provided, single submitter clinical testing
Breda Genetics srl RCV002286577 SCV002576525 uncertain significance Myofibrillar myopathy 5 2022-08-22 criteria provided, single submitter clinical testing The variant c.1840G>A (p.Ala614Thr) in the FLNC gene is reported with uncertain significance for FLNC-associated diseases in ClinVar (Variation ID: 1004530) and as uncertain in the Global Variome shared LOVD database v.3.0 (genomic variant: #0000610716). The variant is reported with an estimated allele frequency of 0.00002005 in gnomAD exomes with no homozygous individuals reported. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.31). In silico analysis indicates that the variant might be damaging.
Ambry Genetics RCV003284151 SCV004004580 uncertain significance Cardiovascular phenotype 2023-03-16 criteria provided, single submitter clinical testing The p.A614T variant (also known as c.1840G>A), located in coding exon 12 of the FLNC gene, results from a G to A substitution at nucleotide position 1840. The alanine at codon 614 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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.

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.