ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4060-7T>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711559 SCV000841938 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711559 SCV000861832 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Invitae RCV000815486 SCV000955943 uncertain significance Dysferlinopathy 2018-10-02 criteria provided, single submitter clinical testing This sequence change falls in intron 37 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. This variant is present in population databases (rs753614306, ExAC 0.009%). This variant has not been reported in the literature in individuals with DYSF-related disease. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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