ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4528-2A>G

gnomAD frequency: 0.00001  dbSNP: rs1213965862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665741 SCV000789909 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-03-13 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001256195 SCV001433002 likely pathogenic Qualitative or quantitative defects of dysferlin 2020-02-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784234 SCV002024438 likely pathogenic not provided 2020-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001256195 SCV004283978 likely pathogenic Qualitative or quantitative defects of dysferlin 2023-10-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 40 of the DYSF gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 550866). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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