ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3719T>G (p.Leu1240Arg)

gnomAD frequency: 0.00003  dbSNP: rs769030725
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001466401 SCV001670403 likely benign Duchenne muscular dystrophy 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038654 SCV005021407 uncertain significance Cardiovascular phenotype 2024-02-21 criteria provided, single submitter clinical testing The p.L1240R variant (also known as c.3719T>G), located in coding exon 27 of the DMD gene, results from a T to G substitution at nucleotide position 3719. The leucine at codon 1240 is replaced by arginine, an amino acid with dissimilar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0024% (5/204390) total alleles studied, with 3 hemizygote(s) observed. The highest observed frequency was 0.0054% (5/92104) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, 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.