ClinVar Miner

Submissions for variant NM_002478.5(MYOD1):c.557dup (p.Arg188fs)

dbSNP: rs1179926739
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000855714 SCV000902434 pathogenic Autosomal dominant centronuclear myopathy; Arthrogryposis multiplex congenita 2019-05-13 criteria provided, single submitter clinical testing The novel variant, c.557dup (p.Arg188ProfsTer90) results in a frameshift and thus premature termination of the transcript. This variant was not present in population databases like 1000 Genome project, Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org/) and in our in-house WES database of 538 Indians. Balletic loss of function variants in MYOD1 were reported previously by Watson at al (2016) and Lopes et al (2018) in three neonates with severe form of disease and an eight years old girl with a milder form of disease respectively.
OMIM RCV001253807 SCV001429680 pathogenic Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 2024-07-16 no assertion criteria provided literature only

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.