ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3364T>C (p.Cys1122Arg) (rs1555369696)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552304 SCV000658221 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 1122 of the DICER1 protein (p.Cys1122Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. 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 (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. 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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