ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.200T>C (p.Leu67Pro) (rs137853077)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000007871 SCV000488678 likely pathogenic Peutz-Jeghers syndrome 2016-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000440305 SCV000514792 pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing The L67P missense variant in the STK11 gene has been previously reported in association with Peutz-Jeghers syndrome (Hemminki et al., 1998; Amos et al., 2004). Functional studies show L78P significantly disrupts autophosphorylation of STK11 (Mehenni et al., 1998). This variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L67P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and occurs within the protein kinase domain, the region sufficient for interaction with SIRT1, and the domain of binding and orientation of ATP (Hearle et al., 2006; Uniprot). In silico analysis predicts this variant is probably damaging to the protein structure/function.
Ambry Genetics RCV000492681 SCV000580921 likely pathogenic Hereditary cancer-predisposing syndrome 2016-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
OMIM RCV000007871 SCV000028076 pathogenic Peutz-Jeghers syndrome 1998-01-08 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000007871 SCV000510527 likely pathogenic Peutz-Jeghers syndrome 2016-05-13 no assertion criteria provided literature only

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