ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2618A>G (p.Asp873Gly) (rs1555370765)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538878 SCV000658194 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-05-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 873 of the DICER1 protein (p.Asp873Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant 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 has uncertain impact on DICER1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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