ClinVar Miner

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

dbSNP: rs397507510
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 w.partners.org/personalizedmedicine/lmm).
CeGaT Center for Human Genetics Tuebingen RCV001090939 SCV001246727 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001090939 SCV002103251 pathogenic not provided 2021-12-28 criteria provided, single submitter clinical testing PP2, PP3, PM1, PM2, PM5, PS3, PS4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992237 SCV004809811 uncertain significance Noonan syndrome 1 2024-04-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003992237 SCV005201093 pathogenic Noonan syndrome 1 2024-09-09 criteria provided, single submitter clinical testing The reported PTPN11 mutation is somatic. PTPN11 is one of the most commonly altered genes in juvenile myelomonocytic leukemia (JMML) and its presence strongly supports a diagnosis of JMML. The PTPN11D61Y is possible germline mutation .

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