Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726448 | SCV000701424 | pathogenic | not provided | 2016-08-08 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000592945 | SCV000795194 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465331 | SCV004194574 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003574783 | SCV004353557 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2023-06-30 | criteria provided, single submitter | clinical testing | 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 (rs768425085, gnomAD 0.004%). This variant has been observed in individual(s) with DYSF-related conditions (PMID: 18832576). ClinVar contains an entry for this variant (Variation ID: 497131). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |