ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.1630C>T (p.Arg544Ter) (rs137852979)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota RCV000240896 SCV000195568 pathogenic DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2014-11-10 criteria provided, single submitter clinical testing
Invitae RCV000240896 SCV000553563 pathogenic DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 544 (p.Arg544*) of the DICER1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DICER1 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with pleuropulmonary blastoma (PMID: 19556464, 24909177, 26925222). This variant is also known as 1812C>T and p.R534X in the literature. ClinVar contains an entry for this variant (Variation ID: 4472). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics,PreventionGenetics RCV000851443 SCV000993726 pathogenic not provided 2016-01-06 criteria provided, single submitter clinical testing
OMIM RCV000004729 SCV000024905 pathogenic Pleuropulmonary blastoma 2009-08-21 no assertion criteria provided literature only

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