ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.487A>T (p.Lys163Ter) (rs1554898235)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497908 SCV000589721 likely pathogenic not provided 2015-12-18 criteria provided, single submitter clinical testing The K163X variant in the PTEN gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This likely pathogenic variant has not been reported previously to our knowledge. The K163X variant is likely pathogenic

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