ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) (rs1573100371)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tan Tock Seng Hospital,National Healthcare Group RCV000850237 SCV000987702 pathogenic Miyoshi muscular dystrophy 1 criteria provided, single submitter clinical testing This single base pair deletion in exon 51 of DYSF gene results in a frameshift and premature truncation of the protein (p.Glu1920SerfsTer85). This is expected to result in disrupted or non-functional protein. It is not present in population databases (GnomAD genomes) and is predicted to be damaging by MutationTaster2. This variant has not been reported in the literature in individuals with DYSF-related disease. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). For these reasons, this variant has been classified as Pathogenic.

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.