ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)

gnomAD frequency: 0.00001  dbSNP: rs746873768
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000201076 SCV000255766 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2012-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000255415 SCV000322447 pathogenic not provided 2016-09-16 criteria provided, single submitter clinical testing The Q612X pathogenic nonsense variant in the DYSF gene has been reported previously in association withDYSF-related disorders in multiple patients who had a second pathogenic variant on their other DYSF allele(Anderson et al., 2000; Nguyen et al., 2007). The Q612X variant is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay.
Eurofins Ntd Llc (ga) RCV000255415 SCV000331259 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000531181 SCV000649614 pathogenic Qualitative or quantitative defects of dysferlin 2024-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln612*) 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). This variant is present in population databases (rs746873768, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with limb girdle muscular dystrophy (PMID: 11053681, 16010686, 18276788, 18832576, 18853459, 25493284). ClinVar contains an entry for this variant (Variation ID: 217223). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000763503 SCV000894293 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000201076 SCV002580067 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2022-06-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003468914 SCV004194246 pathogenic Miyoshi muscular dystrophy 1 2024-03-25 criteria provided, single submitter clinical testing
Counsyl RCV000201076 SCV000798654 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-03-21 no assertion criteria provided clinical testing
Natera, Inc. RCV000201076 SCV002079833 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-08-10 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.