ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.2209C>A (p.Pro737Thr)

dbSNP: rs778284198
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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 RCV001341110 SCV001534959 uncertain significance DICER1-related tumor predisposition 2018-04-09 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 737 of the DICER1 protein (p.Pro737Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, 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 C0"). This variant has not been reported in the literature in individuals with DICER1-related disease. This variant is not present in population databases (ExAC no frequency).

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