Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792716 | SCV000932027 | pathogenic | Qualitative or quantitative defects of dysferlin | 2020-03-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant has been observed in several individuals affected with dysferlinopathies (PMID: 18853459, 25591676, 27647186). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe267Leufs*5) in the DYSF gene. It is expected to result in an absent or disrupted protein product. |
Natera, |
RCV001830689 | SCV002079772 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-12-27 | no assertion criteria provided | clinical testing |