ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.503C>T (p.Thr168Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005410004 SCV006076127 uncertain significance not provided 2024-10-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29493581)
Fulgent Genetics, Fulgent Genetics RCV005004820 SCV005632278 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-01-22 criteria provided, single submitter clinical testing

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