Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000080312 | SCV000335577 | pathogenic | not provided | 2015-09-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000080312 | SCV000613217 | pathogenic | not provided | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000080312 | SCV000680751 | pathogenic | not provided | 2017-10-04 | criteria provided, single submitter | clinical testing | The R1905X pathogenic variant in the DYSF gene has been previously reported, in the homozygous state or in conjunction with another DYSF variant, in individuals with varying DYSF-related disorders (Vilchez et al., 2005; Nguyen et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1905X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). |
Invitae | RCV000808564 | SCV000948676 | pathogenic | Qualitative or quantitative defects of dysferlin | 2019-11-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1905*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121908959, ExAC 0.009%). This variant has been observed to segregate with dysferlinopathy in several families (PMID: 16087766). ClinVar contains an entry for this variant (Variation ID: 6676). Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000007061 | SCV000027257 | pathogenic | Miyoshi muscular dystrophy 1 | 2005-08-01 | no assertion criteria provided | literature only | |
OMIM | RCV000007062 | SCV000027258 | pathogenic | Myopathy, distal, with anterior tibial onset | 2005-08-01 | no assertion criteria provided | literature only | |
Counsyl | RCV000007063 | SCV000788443 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-04-21 | no assertion criteria provided | clinical testing | |
OMIM | RCV000007063 | SCV000809055 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2005-08-01 | no assertion criteria provided | literature only |