Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790678 | SCV000231669 | pathogenic | not provided | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386483 | SCV001586720 | pathogenic | Qualitative or quantitative defects of dysferlin | 2021-05-27 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs398123800, ExAC 0.01%). This sequence change affects a donor splice site in intron 6 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 has been observed in individual(s) with congenital myopathy (PMID: 12410383). This variant is also known as G1036+1C. ClinVar contains an entry for this variant (Variation ID: 94355). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant disrupts mRNA splicing and is expected to lead to the loss of protein expression (PMID: 25312915). |
Fulgent Genetics, |
RCV002498413 | SCV002811611 | pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2021-12-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003474681 | SCV004194236 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-08-08 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000179423 | SCV000797232 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-01-17 | no assertion criteria provided | clinical testing |