Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597870 | SCV000701426 | pathogenic | not provided | 2016-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519337 | SCV003309109 | pathogenic | Qualitative or quantitative defects of dysferlin | 2022-02-01 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln221*) 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 has not been reported in the literature in individuals affected with DYSF-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 290209). |