ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5063C>A (p.Thr1688Lys)

dbSNP: rs1555367495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532685 SCV000658325 uncertain significance DICER1-related tumor predisposition 2019-12-07 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. 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 threonine with lysine at codon 1688 of the DICER1 protein (p.Thr1688Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. 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 disruptive, but these predictions have not been confirmed by published functional studies.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478194 SCV004221858 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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