ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.5038A>G (p.Lys1680Glu) (rs1060503639)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566917 SCV000661965 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000476765 SCV000553606 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-09-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1680 of the DICER1 protein (p.Lys1680Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. 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. ClinVar contains an entry for this variant (Variation ID: 412143). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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