ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.1213A>C (p.Asn405His) (rs551460901)

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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 RCV000574527 SCV000669362 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Invitae RCV000531172 SCV000658116 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-09-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 405 of the DICER1 protein (p.Asn405His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is present in population databases (rs551460901, ExAC 0.001%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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