ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.5425G>A (p.Gly1809Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818689 SCV000959315 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1809 of the DICER1 protein (p.Gly1809Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported as a germline variant in the literature in individuals with DICER1-related disease. Experimental studies have shown that this missense change results in a protein that is inefficient at processing 5p microRNAs compared to the wild-type DICER1 protein (PMID: 25190313, 26033159). 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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