Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003736973 | SCV004376244 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-04-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 869487). This premature translational stop signal has been observed in individual(s) with dysferlinopathy (PMID: 33613410). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu885*) 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). |
Department of Neurology, |
RCV001089588 | SCV001244907 | pathogenic | not provided | 2019-07-01 | no assertion criteria provided | reference population |