Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000353624 | SCV000331706 | pathogenic | not provided | 2016-07-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855080 | SCV002243453 | pathogenic | Qualitative or quantitative defects of dysferlin | 2021-10-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in the activation of a cryptic splice site in intron 44 (PMID: 25493284). ClinVar contains an entry for this variant (Variation ID: 281197). This variant has been observed in individual(s) with clinical features of DYSF-related disease and/or Miyoshi myopathy (PMID: 15469449, 19528035, 25493284, 27066573, 27602406). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 44 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 59 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. |
Baylor Genetics | RCV003469219 | SCV004196541 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-04-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000591407 | SCV000791208 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-05-04 | no assertion criteria provided | clinical testing |