ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.179C>T (p.Thr60Ile) (rs587778228)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567350 SCV000669309 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
ITMI RCV000120637 SCV000084798 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000230149 SCV000291622 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 60 of the DICER1 protein (p.Thr60Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs587778228, ExAC 0.009%). This variant has not been reported in the literature in individuals with DICER1-related disease. ClinVar contains an entry for this variant (Variation ID: 133968). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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