ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)

gnomAD frequency: 0.00001  dbSNP: rs763674597
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674515 SCV000799862 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784295 SCV002021846 pathogenic not provided 2020-11-18 criteria provided, single submitter clinical testing
Invitae RCV001855610 SCV002221089 pathogenic Qualitative or quantitative defects of dysferlin 2023-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558274). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 17070050). This variant is present in population databases (rs763674597, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu1269*) 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).
Baylor Genetics RCV003459646 SCV004196546 pathogenic Miyoshi muscular dystrophy 1 2023-04-06 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.