ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1277-2A>C

dbSNP: rs1553531682
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 RCV000670531 SCV000795393 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003574799 SCV004292553 pathogenic Qualitative or quantitative defects of dysferlin 2023-05-07 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with Miyoshi myopathy (PMID: 16100712). This sequence change affects an acceptor splice site in intron 12 of the DYSF gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 554833). Studies have shown that disruption of this splice site results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 16100712). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004568538 SCV005060292 pathogenic Miyoshi muscular dystrophy 1 2023-12-05 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.