ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.407C>T (p.Thr136Met)

gnomAD frequency: 0.00001  dbSNP: rs748919727
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 RCV001297749 SCV001486780 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322191 SCV002626496 uncertain significance Cardiovascular phenotype 2019-06-26 criteria provided, single submitter clinical testing The p.T136M variant (also known as c.407C>T), located in coding exon 2 of the FLNC gene, results from a C to T substitution at nucleotide position 407. The threonine at codon 136 is replaced by methionine, an amino acid with similar 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.

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.