Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671253 | SCV000796210 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531273 | SCV003524625 | pathogenic | Qualitative or quantitative defects of dysferlin | 2022-04-07 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 38 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with DYSF-related conditions (PMID: 18853459, 27647186). ClinVar contains an entry for this variant (Variation ID: 555431). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |