Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001072066 | SCV001237409 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 9 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 a shortened protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with dysferlinopathy (PMID: 21522182, 33715265). ClinVar contains an entry for this variant (Variation ID: 864798). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of 9, but is expected to preserve the integrity of the reading-frame (PMID: 21522182). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002480447 | SCV002787510 | likely pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2021-10-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003462626 | SCV004196502 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-07-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828532 | SCV002079781 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-08-27 | no assertion criteria provided | clinical testing |