ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3501A>T (p.Glu1167Asp) (rs878855258)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544961 SCV000658229 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-04-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 1167 of the DICER1 protein (p.Glu1167Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DICER1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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