ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5317+1G>A

dbSNP: rs773386253
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647996 SCV000769806 pathogenic Qualitative or quantitative defects of dysferlin 2023-10-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 46 of the DYSF gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is present in population databases (rs773386253, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with limb girdle muscular dystrophy type 2B (PMID: 16100712). ClinVar contains an entry for this variant (Variation ID: 538631). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000669143 SCV000793860 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-09-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733066 SCV000861085 pathogenic not provided 2018-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499105 SCV002813224 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-08-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000669143 SCV002080314 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-10-19 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.