ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10712G>A (p.Arg3571His)

gnomAD frequency: 0.00001  dbSNP: rs935091512
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041741 SCV001205374 likely benign Duchenne muscular dystrophy 2023-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497372 SCV002782676 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-12-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145270 SCV003834765 uncertain significance not provided 2019-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160277 SCV003853657 uncertain significance Cardiovascular phenotype 2023-01-09 criteria provided, single submitter clinical testing The p.R3571H variant (also known as c.10712G>A), located in coding exon 75 of the DMD gene, results from a G to A substitution at nucleotide position 10712. The arginine at codon 3571 is replaced by histidine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of <0.01% (1/183176) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (1/81703) 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003145270 SCV004164708 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing DMD: PP3
Natera, Inc. RCV001832404 SCV002077591 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-23 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.