ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003338182 SCV004047173 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing The frame shift c.5265_5280del (p.Tyr1755Ter) variant in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Tyr1755Ter variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003466068 SCV004192259 likely pathogenic Miyoshi muscular dystrophy 1 2023-02-03 criteria provided, single submitter 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.