ClinVar Miner

Submissions for variant NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) (rs189143447)

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
GeneDx RCV000183380 SCV000235825 likely benign not provided 2014-05-20 criteria provided, single submitter clinical testing The variant is found in CARDIOMYOPATHY panel(s).
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000148465 SCV000267290 uncertain significance Becker muscular dystrophy 2016-03-18 criteria provided, single submitter reference population
PreventionGenetics,PreventionGenetics RCV000254538 SCV000309921 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000990731 SCV000625837 benign Duchenne muscular dystrophy 2020-12-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000254538 SCV000702358 benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Mendelics RCV000990731 SCV001141761 benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000254538 SCV001364027 benign not specified 2019-02-28 criteria provided, single submitter clinical testing Variant summary: DMD c.1318G>A (p.Glu440Lys) results in a conservative amino acid change located in the Spectrin/alpha-actinin repeat of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00043 in 195664 control chromosomes, predominantly at a frequency of 0.0053 within the East Asian subpopulation in the gnomAD database, including 24 hemizygotes. This frequency is significantly higher than expected for a pathogenic variant in DMD causing Dystrophinopathies, strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. c.1318G>A has been reported in the literature in a family affected with Becker muscular dystrophy and it was found in cis with a pathogenic variant (DMD deletion of exons 45 to 53) in 3 affected males and 2 female carriers (Li_2012), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as benign and a submission derived from reference population cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000183380 SCV001500610 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148465 SCV000190165 uncertain significance Becker muscular dystrophy 2014-06-01 no assertion criteria provided research
Natera, Inc. RCV001276610 SCV001463039 uncertain significance Dystrophin deficiency 2020-04-23 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.