ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5642+3dup

dbSNP: rs1341734203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671083 SCV000796025 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-30 criteria provided, single submitter clinical testing
Invitae RCV001059454 SCV001224078 uncertain significance Qualitative or quantitative defects of dysferlin 2022-02-04 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 555289). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 49 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. 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.

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