ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3073G>T (p.Glu1025Ter) (rs1131691225)

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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 RCV000493873 SCV000581614 pathogenic Hereditary cancer-predisposing syndrome 2013-12-31 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)
GeneDx RCV000521958 SCV000617869 pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing This variant is denoted DICER1 c.3073G>T at the cDNA level and p.Glu1025Ter (E1025X) at theprotein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon(GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in two siblings with ovarian sex cord-stromal tumors andthyroid disease (Schultz 2011) and is considered pathogenic

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