ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4652A>G (p.Glu1551Gly)

dbSNP: rs1890324060
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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 RCV001344715 SCV001538782 uncertain significance DICER1-related tumor predisposition 2021-11-09 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1040976). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1551 of the DICER1 protein (p.Glu1551Gly).
Baylor Genetics RCV003469577 SCV004193329 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2023-10-17 criteria provided, single submitter clinical testing

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