ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.661A>G (p.Ile221Val) (rs397516806)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159048 SCV000208990 pathogenic not provided 2014-07-08 criteria provided, single submitter clinical testing The I221V missense mutation in the PTPN11 gene has been reported previously in association with Noonan syndrome (Lepri et al., 2014). The I221V mutation 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. The variant is found in NOONAN panel(s).

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