ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.102A>G (p.Gln34=) (rs1566816390)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691619 SCV000819405 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-05-23 criteria provided, single submitter clinical testing This sequence change affects codon 34 of the DICER1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DICER1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DICER1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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