ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.431A>T (p.Lys144Met)

dbSNP: rs1060503629
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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 RCV000471774 SCV000553585 uncertain significance DICER1-related tumor predisposition 2016-11-02 criteria provided, single submitter clinical testing 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. This sequence change replaces lysine with methionine at codon 144 of the DICER1 protein (p.Lys144Met). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and methionine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant 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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