ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5096-9T>G

dbSNP: rs2139816821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370273 SCV001566743 uncertain significance DICER1-related tumor predisposition 2020-05-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DICER1-related conditions. This sequence change falls in intron 23 of the DICER1 gene. It does not directly change the encoded amino acid sequence of the DICER1 protein. This variant is not present in population databases (ExAC no frequency). 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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