ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys)

gnomAD frequency: 0.00002  dbSNP: rs536331212
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 RCV000820348 SCV000961057 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV002251521 SCV002522035 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing Observed in an individual with limb girdle muscular dystrophy, who also harbored an additional variant of uncertain significance in MYH7 (Savarese et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25214167)
Ambry Genetics RCV002332701 SCV002627537 uncertain significance Cardiovascular phenotype 2023-07-27 criteria provided, single submitter clinical testing The p.R1434C variant (also known as c.4300C>T), located in coding exon 25 of the FLNC gene, results from a C to T substitution at nucleotide position 4300. The arginine at codon 1434 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002251521 SCV004563265 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing The FLNC c.4300C>T; p.Arg1434Cys variant (rs536331212), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 662657). This variant is found on four alleles in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.691). Due to limited information, the clinical significance of this variant is uncertain at this time.

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.