ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3579_3594dup (p.Gly1199fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV005055252 SCV005688992 pathogenic Pleuropulmonary blastoma 2024-07-08 criteria provided, single submitter clinical testing The DICER1 c.3579_3594dup (p.Gly1199GlnfsTer41) change duplicates sixteen nucleotides to cause a frameshift and the creation of a premature stop codon. This change is predicted to cause protein truncation or absence of protein due to nonsense-mediated decay. This variant has been reported in an individual whose tumor harbored a second pathogenic variant in the DICER1 gene (internal data). This variant is also absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic.

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