ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.5511G>A (p.Met1837Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793109 SCV000932449 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-11-04 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1837 of the DICER1 protein (p.Met1837Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs747798126, ExAC 0.001%). This variant has not been reported in the literature in individuals with DICER1-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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