ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.838_839delinsGT (p.Pro280Val) (rs786205863)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567932 SCV000664374 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000600473 SCV000731469 uncertain significance not specified 2017-04-21 criteria provided, single submitter clinical testing The p.Pro280Val variant in STK11 has not been previously reported in the literat ure, but has been reported in ClinVar (Variation ID 192225). It was absent from large population studies. This variant represents two adjacent base pair changes that are present on the same copy of the STK11 gene and results in the substitu tion of a single proline (Pro) residue at position 280 with a Valine (Val). Comp utational prediction tools and conservation analysis do not provide strong suppo rt for or against an impact to the protein. In summary, the clinical significanc e of the p.Pro280Val variant is uncertain.
Pathway Genomics RCV000172823 SCV000223789 uncertain significance Peutz-Jeghers syndrome 2014-10-30 no assertion criteria provided clinical testing

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