ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)

dbSNP: rs143623535
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
GeneDx RCV000734411 SCV000618694 uncertain significance not provided 2019-06-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000539559 SCV000651026 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734411 SCV000862552 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329238 SCV002630890 uncertain significance Cardiovascular phenotype 2024-05-23 criteria provided, single submitter clinical testing The p.R1434H variant (also known as c.4301G>A), located in coding exon 25 of the FLNC gene, results from a G to A substitution at nucleotide position 4301. The arginine at codon 1434 is replaced by histidine, an amino acid with highly similar properties. This variant has been detected in an individual from a pediatric dilated cardiomyopathy cohort; however, details were limited (Ware SM et al. Am J Hum Genet. 2022 Feb;109(2):282-298). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002497017 SCV002816756 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-06 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.