ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2117-9A>G

dbSNP: rs878855247
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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 RCV000227606 SCV000291630 uncertain significance DICER1-related tumor predisposition 2016-03-27 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the DICER1 mRNA. 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) and has not been reported in the literature in individuals with a DICER1-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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