ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) (rs398123781)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000382340 SCV000331273 pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing
Invitae RCV000535509 SCV000649663 pathogenic Qualitative or quantitative defects of dysferlin 2019-09-06 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotide and inserts 2 nucleotides in exon 32 of the DYSF mRNA (c.3444_3445delinsAA). This creates a premature translational stop signal (p.Tyr1148*) and is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported several times in the literature in either the homozygous or compound heterozygous state with a second DYSF variant in individuals affected with Miyoshi myopathy, distal myopathy, limb-girdle muscular dystrophy, and dysferlinopathy (PMID: 15469449, 19528035, 25493284, 27066573, 27602406). This variant is also known as 3817 8TG>AA in the literature. ClinVar contains an entry for this variant (Variation ID: 94305). Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763089 SCV000893616 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000984168 SCV001132181 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-02-01 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.