ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)

dbSNP: rs778092738
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669562 SCV000794325 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868234 SCV002193778 pathogenic Qualitative or quantitative defects of dysferlin 2023-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1330*) 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 individuals with dysferlinopathy (PMID: 25591676, 27647186, 30107846). ClinVar contains an entry for this variant (Variation ID: 554013). For these reasons, this variant has been classified as Pathogenic.
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology RCV001089589 SCV001244910 pathogenic not provided 2019-07-01 no assertion criteria provided reference population

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.