Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000801537 | SCV000941314 | pathogenic | Qualitative or quantitative defects of dysferlin | 2022-09-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln1367*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 647109). |
Baylor Genetics | RCV003461132 | SCV004194577 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2022-02-03 | criteria provided, single submitter | clinical testing |