ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2063G>A (p.Arg688Gln) (rs542398644)

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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 RCV000567747 SCV000669312 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000467565 SCV000553542 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 688 of the DICER1 protein (p.Arg688Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs542398644, ExAC 0.01%) but has not been reported in the literature in individuals with a DICER1-related disease. ClinVar contains an entry for this variant (Variation ID: 412086). 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 rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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