Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594208 | SCV000704227 | pathogenic | not provided | 2016-12-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003736833 | SCV004482541 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1257*) 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 premature translational stop signal has been observed in individual(s) with dysferlinopathy (PMID: 32400077). ClinVar contains an entry for this variant (Variation ID: 498955). For these reasons, this variant has been classified as Pathogenic. |