ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.342del (p.Ala116fs)

dbSNP: rs886042379
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377821 SCV000333723 pathogenic not provided 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV000532444 SCV000649660 pathogenic Qualitative or quantitative defects of dysferlin 2023-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 282316). This premature translational stop signal has been observed in individual(s) with dysferlinopathy (PMID: 27647186). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala115Profs*36) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480).
CeGaT Center for Human Genetics Tuebingen RCV000377821 SCV001246778 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502101 SCV002807596 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469224 SCV004192280 pathogenic Miyoshi muscular dystrophy 1 2022-11-05 criteria provided, single submitter clinical testing
Counsyl RCV000593550 SCV000790869 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-04-12 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.