ClinVar Miner

Submissions for variant NC_000002.11:g.(?_71793586)_(71797845_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004583656 SCV005063281 pathogenic Qualitative or quantitative defects of dysferlin 2023-11-13 criteria provided, single submitter clinical testing This variant results in the deletion of exons 25-28 and part of exon 29 (c.2512-1495_3148del) 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 has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 573415). This variant disrupts a region of the DYSF protein in which other variant(s) (p.Arg959Trp) have been determined to be pathogenic (PMID: 14678801, 16934466, 17070050, 19528035, 21522182, 22194990). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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.