ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) (rs72468667)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176398 SCV000228048 likely benign not specified 2014-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001529329 SCV000235884 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19937601, 25163546, 27977773, 14695533)
Invitae RCV000467443 SCV000560798 benign Duchenne muscular dystrophy 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000176398 SCV000613117 benign not specified 2016-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617430 SCV000735248 benign Cardiovascular phenotype 2017-12-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282207 SCV001157645 benign none provided 2020-02-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000176398 SCV001478579 likely benign not specified 2021-01-11 criteria provided, single submitter clinical testing Variant summary: DMD c.2971G>C (p.Glu991Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0015 in 181591 control chromosomes (gnomAD). The observed variant frequency is approximately 133 fold of the estimated maximal expected allele frequency for a pathogenic variant in DMD causing Dystrophinopathies phenotype (1.1e-05), strongly suggesting that the variant is benign. c.2971G>C has been reported in the literature (Haas_2015). These reports however, do not provide unequivocal conclusions about association of the variant with Dystrophinopathies. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529329 SCV001742586 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529329 SCV001798672 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000176398 SCV001928329 benign not specified 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.