ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3575-1G>C

dbSNP: rs2093462674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003105132 SCV003783914 pathogenic Qualitative or quantitative defects of dysferlin 2022-05-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with DYSF-related conditions (PMID: 27647186). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 32 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).
Baylor Genetics RCV004572849 SCV005060262 likely pathogenic Miyoshi muscular dystrophy 1 2024-03-07 criteria provided, single submitter clinical testing

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