ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.3019C>T (p.Gln1007Ter) (rs1131691189)

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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 RCV000492911 SCV000581521 pathogenic Hereditary cancer-predisposing syndrome 2012-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000524088 SCV000617870 pathogenic not provided 2017-08-23 criteria provided, single submitter clinical testing This variant is denoted DICER1 c.3019C>T at the cDNA level and p.Gln1007Ter (Q1007X) at theprotein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon(CAG>TAG), 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 at least one individual with DICER1-PleuropulmonaryBlastoma Familial Tumor Predisposition Syndrome (Stewart 2014). We consider this variant to be pathogenic.

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