ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4961A>C (p.Asp1654Ala)

dbSNP: rs1595338147
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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 RCV001209059 SCV001380478 uncertain significance DICER1-related tumor predisposition 2019-09-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 1654 of the DICER1 protein (p.Asp1654Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). 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.

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