ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3302C>G (p.Ser1101Cys) (rs779748717)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553084 SCV000658218 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2017-05-27 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 1101 of the DICER1 protein (p.Ser1101Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs779748717, ExAC 0.006%). This variant 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on DICER1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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