Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000299421 | SCV000335591 | pathogenic | not provided | 2015-09-22 | criteria provided, single submitter | clinical testing | |
Suma Genomics | RCV001815304 | SCV002062075 | pathogenic | Miyoshi muscular dystrophy 1 | criteria provided, single submitter | clinical testing | ||
Invitae | RCV003765605 | SCV004634454 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-05-01 | 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: 283471). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1487*) 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). |