Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000261362 | SCV000334405 | pathogenic | not provided | 2015-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001379694 | SCV001577540 | likely pathogenic | Qualitative or quantitative defects of dysferlin | 2023-04-26 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 282771). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is present in population databases (rs151317754, gnomAD 0.003%). This sequence change affects a donor splice site in intron 23 of the DYSF gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). |
Baylor Genetics | RCV003463745 | SCV004196515 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-06-13 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000349131 | SCV000790537 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-03-29 | no assertion criteria provided | clinical testing |