ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) (rs397507510)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215649 SCV000271443 pathogenic Juvenile myelomonocytic leukemia 2015-02-06 criteria provided, single submitter clinical testing The p.Asp61Tyr in PTPN11 has been previously reported as a somatic variant in at least 30 sporadic cases of JMML, 10 sporadic cases of other hematological malig nancies, and 1 child with neuroblastoma (Tartaglia 2003, Loh 2004, Tartaglia 200 4, Bentires-Alj 2004, Kratz 2005, Tartaglia 2006, Gelsi-Boyer 2008, Paulsson 200 8, Silva 2009, Yoshida 2009, Pugh 2013, Sakaguchi 2013, Strullu 2014) and was ab sent from large population studies. In vitro and in-vivo studies using mouse mod els have shown strong evidence that this variant affects the protein (Tarataglia 2003, Loh 2004, Chan 2005, Chan 2009, Yang 2010). Other variants at this positi on (p.Asp61Gly, p.Asp61Ala, p.Asp61Asn, p.Asp61His, p.Asp61Val) were also report ed in multiple patients with Noonan syndrome and/or hematological malignancies ( Tartaglia 2005, Kratz 2005, Bertola 2006, Sakaguchi 2013, Strullu 2014). In summ ary, this variant meets our criteria to be classified as pathogenic for JMML (ww
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090939 SCV001246727 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing

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