Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000356683 | SCV000331439 | pathogenic | not provided | 2013-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001854415 | SCV002239080 | pathogenic | Qualitative or quantitative defects of dysferlin | 2021-05-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with dysferlinopathy (PMID: 26444858). ClinVar contains an entry for this variant (Variation ID: 94295). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln957*) 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). |