ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg)

dbSNP: rs121908963
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
Invitae RCV001038919 SCV001202420 pathogenic Qualitative or quantitative defects of dysferlin 2021-01-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect DYSF protein function (PMID: 23185377). This variant has been observed in individual(s) with limb-girdle muscular dystrophy or Miyoshi myopathy (PMID: 17698709, 18306167, 27647186, 28877744). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 837557). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 299 of the DYSF protein (p.Gly299Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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.