Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001058448 | SCV001223022 | pathogenic | Qualitative or quantitative defects of dysferlin | 2019-01-30 | criteria provided, single submitter | clinical testing | Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant has been observed in an individual affected with Miyoshi myopathy (PMID: 11468312). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1732*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |
| 3billion | RCV003152748 | SCV003841465 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with DYSF related disorder (ClinVar ID: VCV000853605 / PMID: 11468312 / 3billion dataset). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
| Baylor Genetics | RCV003467792 | SCV004194215 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2023-09-06 | criteria provided, single submitter | clinical testing |