ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)

dbSNP: rs2038154558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001964503 SCV002127658 pathogenic RASopathy 2021-06-17 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 with PTPN11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg231*) 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).
Fulgent Genetics, Fulgent Genetics RCV002503431 SCV002816733 likely pathogenic Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-07-22 criteria provided, single submitter clinical testing

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