ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3085+2T>C

dbSNP: rs886042951
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280615 SCV000337580 pathogenic not provided 2015-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001037309 SCV001200718 pathogenic Qualitative or quantitative defects of dysferlin 2023-07-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 28 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 not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 284804). Disruption of this splice site has been observed in individuals with dysferlinopathy (PMID: 18853459, 23406536, 26444858). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.
Revvity Omics, Revvity RCV000280615 SCV002021858 pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469233 SCV004194573 pathogenic Miyoshi muscular dystrophy 1 2022-03-10 criteria provided, single submitter clinical testing
GeneDx RCV000280615 SCV005326178 pathogenic not provided 2023-08-26 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33715265, 33927379, 23406536, 26444858)
Natera, Inc. RCV001828208 SCV002082253 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-03-02 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.