ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.21A>G (p.Gln7=) (rs754489130)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462962 SCV000553607 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-06-18 criteria provided, single submitter clinical testing This sequence change affects codon 7 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 present in population databases (rs754489130, ExAC 0.01%) but has not been reported in the literature in individuals with a DICER1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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