ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.1787C>A (p.Thr596Asn) (rs754852266)

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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 RCV000573803 SCV000669416 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000226251 SCV000291621 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2015-12-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 596 of the DICER1 protein (p.Thr596Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (ExAC <0.01%) but 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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