Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207233 | SCV001378577 | pathogenic | Qualitative or quantitative defects of dysferlin | 2022-02-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr838*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 938081). 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). |
Myriad Genetics, |
RCV001263672 | SCV001441764 | likely pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2020-02-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001776143 | SCV002012706 | pathogenic | not provided | 2021-11-18 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |