ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1277-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005085012 SCV005713786 pathogenic Qualitative or quantitative defects of dysferlin 2024-10-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with dysferlinopathy (PMID: 34559919). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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