Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000711544 | SCV000339537 | pathogenic | not provided | 2016-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000700616 | SCV000829378 | likely pathogenic | Qualitative or quantitative defects of dysferlin | 2017-06-07 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 11 of the DYSF gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 94262). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYSF are known to be pathogenic (PMID: 25591676). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Athena Diagnostics Inc | RCV000711544 | SCV000841922 | pathogenic | not provided | 2018-03-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763501 | SCV000894291 | likely pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000174082 | SCV000791948 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-06-01 | no assertion criteria provided | clinical testing |