ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2906C>T (p.Ala969Val) (rs878855253)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233100 SCV000291649 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-09-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 969 of the DICER1 protein (p.Ala969Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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