ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1150-43_1155delinsA

dbSNP: rs1573743003
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807471 SCV000947524 likely pathogenic Qualitative or quantitative defects of dysferlin 2019-05-29 criteria provided, single submitter clinical testing Donor and acceptor splice site variants 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 has not been reported in the literature in individuals with DYSF-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 11 of the DYSF gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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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