ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.1420A>G (p.Ile474Val) (rs1060503581)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470835 SCV000553488 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2016-04-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 474 of the DICER1 protein (p.Ile474Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
