ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.920G>T (p.Arg307Leu)

dbSNP: rs149718671
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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 RCV001068323 SCV001233429 uncertain significance DICER1-related tumor predisposition 2019-01-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DICER1-related conditions. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This sequence change replaces arginine with leucine at codon 307 of the DICER1 protein (p.Arg307Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine.

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