ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.796C>T (p.Leu266Phe)

dbSNP: rs772627278
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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 RCV000700787 SCV000829558 uncertain significance DICER1-related tumor predisposition 2021-01-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with DICER1-related disease. This variant is present in population databases (rs772627278, ExAC 0.007%). This sequence change replaces leucine with phenylalanine at codon 266 of the DICER1 protein (p.Leu266Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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