ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1494-1G>A

dbSNP: rs398123768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790756 SCV000226470 pathogenic not provided 2012-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000175043 SCV000789414 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003574710 SCV004283551 likely pathogenic Qualitative or quantitative defects of dysferlin 2023-05-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 15 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). Disruption of this splice site has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 33610434). ClinVar contains an entry for this variant (Variation ID: 94272). 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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