Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000277199 | SCV000333035 | pathogenic | not provided | 2015-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000701150 | SCV000829934 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 30 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 present in population databases (rs370874727, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with clinical features of limb-girdle muscular dystrophy (PMID: 19528035; Invitae). ClinVar contains an entry for this variant (Variation ID: 196694). 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. |
Baylor Genetics | RCV003468863 | SCV004194181 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000984258 | SCV001132382 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-06-28 | no assertion criteria provided | clinical testing |