ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3172C>A (p.Leu1058Ile) (rs1555370024)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558190 SCV000658210 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-03-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 1058 of the DICER1 protein (p.Leu1058Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency) and 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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