ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.481A>T (p.Ile161Phe) (rs1131690938)

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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 RCV000492167 SCV000580925 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000522813 SCV000617619 likely pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing This variant is denoted STK11 c.481A>T at the cDNA level, p.Ile161Phe (I161F) at the protein level,and results in the change of an Isoleucine to a Phenylalanine (ATT>TTT). This variant has been observed in at leastone family meeting clinical diagnostic criteria of Peutz-Jeghers Syndrome (Borun 2013). STK11 Ile161Phe was notobserved in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek2016). Since Isoleucine and Phenylalanine share similar properties, this is considered a conservative amino acidsubstitution. STK11 Ile161Phe occurs at a position where amino acids with properties similar to Isoleucine aretolerated across species and is located within the Protein kinase domain (UniProt). In silico analyses are inconsistentregarding the effect this variant may have on protein structure and function. Based on the currently available evidenceand internal data, we consider STK11 Ile161Phe to be a likely pathogenic variant

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