Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726461 | SCV000344839 | pathogenic | not provided | 2016-09-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000291296 | SCV000799645 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-04-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001859715 | SCV002168916 | pathogenic | Qualitative or quantitative defects of dysferlin | 2021-02-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 290310). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1695*) 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). |