ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1577-1G>A

dbSNP: rs189923208
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000317735 SCV000338090 pathogenic not provided 2015-12-21 criteria provided, single submitter clinical testing
Invitae RCV000809637 SCV000949800 pathogenic Qualitative or quantitative defects of dysferlin 2018-12-28 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in several individuals affected with dysferlinopathy (PMID: 27647186). ClinVar contains an entry for this variant (Variation ID: 285177). This variant is present in population databases (rs189923208, ExAC 0.01%). This sequence change affects an acceptor splice site in intron 17 of the DYSF gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants 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).

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.