ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2812-4A>T

gnomAD frequency: 0.00002  dbSNP: rs1461105538
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068043 SCV001233132 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436671 SCV002747633 uncertain significance Cardiovascular phenotype 2021-08-06 criteria provided, single submitter clinical testing The c.2812-4A>T intronic variant results from an A to T substitution 4 nucleotides upstream from coding exon 19 in the FLNC gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. 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.