ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.1979A>G (p.Asp660Gly) (rs151272381)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573224 SCV000661883 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Invitae RCV000654451 SCV000776345 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-12-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 660 of the DICER1 protein (p.Asp660Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs151272381, ExAC 0.03%). This variant has not been reported in the literature in individuals with DICER1-related disease. ClinVar contains an entry for this variant (Variation ID: 479612). 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 and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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