Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001204872 | SCV001376100 | likely pathogenic | Qualitative or quantitative defects of dysferlin | 2024-02-19 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 6 (c.658_663+5del) 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). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 936135). 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. |
| Gene |
RCV001563183 | SCV001786078 | likely pathogenic | not provided | 2024-04-05 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
| Baylor Genetics | RCV003462685 | SCV004196520 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2023-12-05 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005036455 | SCV005659262 | likely pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2024-05-25 | criteria provided, single submitter | clinical testing |