ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)

gnomAD frequency: 0.00002  dbSNP: rs1431604157
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048445 SCV001212452 likely benign Duchenne muscular dystrophy 2023-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200317 SCV001371240 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117723 SCV003800956 uncertain significance not specified 2023-01-11 criteria provided, single submitter clinical testing Variant summary: DMD c.4604C>T (p.Thr1535Met) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 182799 control chromosomes, including one hemizygote. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4604C>T has been reported in the literature in at-least one individual affected with dilated cardiomyopathy (example: Dal Ferro_2017). These report(s) 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. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001827305 SCV002085312 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-29 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.