ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2011A>G (p.Ile671Val) (rs768315203)

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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 RCV000565131 SCV000669366 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000459832 SCV000553601 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2016-09-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 671 of the DICER1 protein (p.Ile671Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. The frequency data for this variant (rs768315203) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a DICER1-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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