ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.1051C>T (p.Arg351Ter) (rs923052172)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413347 SCV000490888 pathogenic not provided 2015-07-23 criteria provided, single submitter clinical testing The R351X nonsense variant in the PTPN11 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R351X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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