ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.4449G>A (p.Met1483Ile) (rs1454569806)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699832 SCV000828561 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-05-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 1483 of the DICER1 protein (p.Met1483Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. 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 disease. 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.
Fulgent Genetics,Fulgent Genetics RCV000765193 SCV000896428 uncertain significance Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Rhabdomyosarcoma, embryonal, 2; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-10-31 criteria provided, single submitter clinical testing

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