ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.4407_4410del (p.Ser1470fs) (rs875989784)

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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 RCV000240868 SCV000195616 pathogenic DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2014-11-10 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000211112 SCV000267168 pathogenic Pineoblastoma 2014-07-15 criteria provided, single submitter research
Invitae RCV000240868 SCV000553594 pathogenic DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2016-07-18 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 23 of the DICER1 mRNA (c.4407_4410delTTCT), causing a frameshift at codon 1470. This creates a premature translational stop signal (p.Ser1470Leufs*19) and 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 pineoblastoma (PMID: 25022261), nasal chondromesenchymal hamartoma (PMID: 25118636), and pleuropulmonary blastoma (PMID: 24909177). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000494649 SCV000581575 pathogenic Hereditary cancer-predisposing syndrome 2017-09-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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