ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.184T>C (p.Tyr62His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital RCV004698371 SCV005199862 likely pathogenic Noonan syndrome 2024-03-30 criteria provided, single submitter clinical testing The c.184T>C variant is a missense variant in PTPN11 and has not been reported with suspected or confirmed Noonan syndrome in a population databases (gnomAD no frequency). This variant has been identified by our laboratory in one individual with clinical features of Noonan Syndrome and was absent from large population studies. This gain-of-function variant is expected to result in an disrupted protein product, and classified as likely pathogenic for Noonan syndrome based on the ACMG/AMP criteria.

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