ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5547-1G>C

dbSNP: rs1573094617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991934 SCV001143824 likely pathogenic not provided 2019-06-28 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Invitae RCV001869370 SCV002243737 pathogenic Qualitative or quantitative defects of dysferlin 2021-04-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with Miyoshi myopathy (PMID: 19528035). ClinVar contains an entry for this variant (Variation ID: 804770). This sequence change affects an acceptor splice site in intron 48 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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