ClinVar Miner

Submissions for variant NC_000002.11:g.(?_71816713)_(71817428_?)dup

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 RCV001379107 SCV001576842 likely pathogenic Qualitative or quantitative defects of dysferlin 2020-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DYSF-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant results in a copy number gain of the genomic region encompassing exon(s) 31-32 of the DYSF gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product.

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.