Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517890 | SCV000613185 | pathogenic | not provided | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001382905 | SCV001581864 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-07-25 | 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: 447282). This premature translational stop signal has been observed in individuals with clinical features of DYSF-related conditions (PMID: 12796534, 17698709, 18853459). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr586*) 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). |
Natera, |
RCV001834663 | SCV002079829 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-06-16 | no assertion criteria provided | clinical testing |