ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.358G>T (p.Glu120Ter) (rs775595174)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480132 SCV000570671 pathogenic not provided 2016-06-16 criteria provided, single submitter clinical testing This variant is denoted STK11 c.358G>T at the cDNA level and p.Glu120Ter (E120X) at the protein level. This variant has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in lung adenocarcinoma samples (Fernandez 2004, Gill 2011). The STK11 c.358G>T 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 is considered pathogenic.
Ambry Genetics RCV000492438 SCV000580926 pathogenic Hereditary cancer-predisposing syndrome 2016-10-20 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)

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