ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.5746C>T (p.Gln1916Ter) (rs1253131536)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654413 SCV000776306 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-12-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DICER1 gene (p.Gln1916*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 7 amino acids 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. 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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