ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.55C>A (p.Pro19Thr)

dbSNP: rs1060503638
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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 RCV000468835 SCV000553605 uncertain significance DICER1-related tumor predisposition 2016-12-11 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 proline with threonine at codon 19 of the DICER1 protein (p.Pro19Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.

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