ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)

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
Ambry Genetics RCV002371023 SCV002672430 pathogenic Cardiovascular phenotype 2021-12-09 criteria provided, single submitter clinical testing The c.7235_7236delCT pathogenic mutation, located in coding exon 43 of the FLNC gene, results from a deletion of two nucleotides at nucleotide positions 7235 to 7236, causing a translational frameshift with a predicted alternate stop codon p.T2412Sfs*29). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Institute of Human Genetics, Heidelberg University RCV002463377 SCV002757808 likely pathogenic Hypertrophic cardiomyopathy 26 2022-08-24 criteria provided, single submitter clinical testing
Invitae RCV003103376 SCV002982287 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2412Serfs*29) in the FLNC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). This variant is present in population databases (rs776889134, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1757829). For these reasons, this variant has been classified as Pathogenic.

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.