ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8234T>C (p.Ile2745Thr)

gnomAD frequency: 0.00003  dbSNP: rs367735348
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000630571 SCV000751536 likely benign Duchenne muscular dystrophy 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413797 SCV002676141 uncertain significance Cardiovascular phenotype 2022-09-23 criteria provided, single submitter clinical testing The p.I2745T variant (also known as c.8234T>C), located in coding exon 56 of the DMD gene, results from a T to C substitution at nucleotide position 8234. The isoleucine at codon 2745 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.0018% (3/171011) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0080% (1/12509) of African alleles. This amino acid position is well 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.
Natera, Inc. RCV001829760 SCV002087693 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-12 no assertion criteria provided clinical testing

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.