ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.5276A>G (p.Lys1759Arg) (rs144259142)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225800 SCV000291710 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1759 of the DICER1 protein (p.Lys1759Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs144259142, ExAC 0.009%). This variant has been reported in an individual affected with breast cancer (PMID: 28202063). ClinVar contains an entry for this variant (Variation ID: 133974). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV000563154 SCV000661890 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
ITMI RCV000120643 SCV000084804 not provided not specified 2013-09-19 no assertion provided reference population

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