ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2900T>G (p.Leu967Arg)

gnomAD frequency: 0.00002  dbSNP: rs766400327
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 RCV000685403 SCV000812881 likely benign Duchenne muscular dystrophy 2024-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440419 SCV002746826 uncertain significance Cardiovascular phenotype 2018-04-19 criteria provided, single submitter clinical testing The p.L967R variant (also known as c.2900T>G), located in coding exon 22 of the DMD gene, results from a T to G substitution at nucleotide position 2900. The leucine at codon 967 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829891 SCV002089659 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-25 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.