ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7371del (p.Glu2458fs)

dbSNP: rs1554401780
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 RCV000559888 SCV000659724 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2458Serfs*71) 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 not present in population databases (gnomAD no frequency). 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: 478132). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001584364 SCV001811884 pathogenic not provided 2023-05-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with an FLNC-related disorder to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 35699965)
Ambry Genetics RCV002384273 SCV002675028 pathogenic Cardiovascular phenotype 2020-11-19 criteria provided, single submitter clinical testing The c.7371delT pathogenic mutation, located in coding exon 44 of the FLNC gene, results from a deletion of one nucleotide at nucleotide position 7371, causing a translational frameshift with a predicted alternate stop codon (p.E2458Sfs*71). 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.

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.