Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674515 | SCV000799862 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-05-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001784295 | SCV002021846 | pathogenic | not provided | 2020-11-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855610 | SCV002221089 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-03-23 | 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: 558274). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 17070050). This variant is present in population databases (rs763674597, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu1269*) 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). |
Baylor Genetics | RCV003459646 | SCV004196546 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-04-06 | criteria provided, single submitter | clinical testing |