ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)

dbSNP: rs1574354515
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000824113 SCV000964996 pathogenic Qualitative or quantitative defects of dysferlin 2024-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1464*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 16996541). ClinVar contains an entry for this variant (Variation ID: 665762). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001830826 SCV002082326 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-07-16 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.