Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000342909 | SCV000343572 | uncertain significance | not provided | 2016-07-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000647998 | SCV000769808 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-05-16 | criteria provided, single submitter | clinical testing | 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 289245). This variant has been observed in individuals with DYSF-related conditions (PMID: 27647186, 30564623; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 26 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. For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000668205 | SCV000792770 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-07-12 | criteria provided, single submitter | clinical testing |