ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3695G>A (p.Ser1232Asn) (rs1060503597)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469516 SCV000553519 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2016-10-15 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1232 of the DICER1 protein (p.Ser1232Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. 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 asparagine 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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