Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003467891 | SCV004194565 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2022-07-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003738465 | SCV004536977 | likely pathogenic | Qualitative or quantitative defects of dysferlin | 2023-05-23 | criteria provided, single submitter | clinical testing | 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. This sequence change falls in intron 12 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has been observed in individual(s) with Limb-Girdle Muscular Dystrophy (PMID: 30919934, 33751525). This variant is also known as c.1175_1176insGCAGAGTG. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. |