ClinVar Miner

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

dbSNP: rs2093462674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221399 SCV001393442 pathogenic Qualitative or quantitative defects of dysferlin 2023-04-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 949835). 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).

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