ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) (rs1057519132)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416117 SCV000493274 likely pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000416117 SCV000700992 pathogenic not provided 2017-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000416117 SCV000709976 pathogenic not provided 2018-03-12 criteria provided, single submitter clinical testing The c.5022delT variant in the DYSF gene has been reported previously, using alternate nomenclature 5393delT, in an affected individual with limb-girdle muscular dystrophy 2B who also harbored a DYSF nonsense variant, although it is unknown if parental studies were performed to determine the phase of these two variants (Walter et al., 2003). The c.5022delT has also been reported in an individual with Miyoshi myopathy who also harbored a DYSF missense variant, however, the phase of these variants is not known (Walter et al., 2013). The c.5022delT variant causes a frameshift starting with codon Phenylalanine 1674, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Phe1674LeufsX48. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5022delT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5022delT as a pathogenic variant.

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.