ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.414T>G (p.Tyr138Ter) (rs1554898161)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657582 SCV000779319 pathogenic not provided 2018-04-17 criteria provided, single submitter clinical testing This variant is denoted PTEN c.414T>G at the cDNA level and p.Tyr138Ter (Y138X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000699906 SCV000828637 pathogenic PTEN hamartoma tumor syndrome 2018-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr138*) in the PTEN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related disease. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.

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