ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2650+1G>T (rs886037691)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414361 SCV000491482 pathogenic not provided 2016-12-13 criteria provided, single submitter clinical testing The c.2650+1G>T splice site variant in the DICER1 gene has previously been reported in at least one individual with pleuropulmonary blastoma (Brenneman et al., 2015). This variant destroys the canonical splice donor site in intron 16, and is expected to cause abnormal gene splicing. In addition, this variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on the currently available data, we consider c.2650+1G>T to be pathogenic.
International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota RCV000240889 SCV000195591 pathogenic DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2014-11-10 criteria provided, single submitter clinical testing

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