ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.913C>T (p.Gln305Ter) (rs1131690945)

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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 RCV000492604 SCV000580935 pathogenic Hereditary cancer-predisposing syndrome 2014-03-31 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 RCV000657704 SCV000779453 pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing This variant is denoted STK11 c.913C>T at the cDNA level and p.Gln305Ter (Q305X) at the protein 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 referred for multi-gene panel testing (LaDuca 2017). It is considered pathogenic.

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