ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1534C>T (p.Arg512Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002577202 SCV002932014 pathogenic RASopathy 2022-10-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PTPN11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg512*) in the PTPN11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTPN11 are known to be pathogenic (PMID: 20577567, 21533187).

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