ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5177A>T (p.Gln1726Leu)

dbSNP: rs1555366877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557161 SCV000658333 uncertain significance DICER1-related tumor predisposition 2020-09-09 criteria provided, single submitter clinical testing 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. 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"). 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. This sequence change replaces glutamine with leucine at codon 1726 of the DICER1 protein (p.Gln1726Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine.

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