ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.289C>T (p.Gln97Ter) (rs786204928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000169873 SCV000222202 pathogenic not provided 2016-08-09 criteria provided, single submitter clinical testing This pathogenic variant is denoted PTEN c.289C>T at the cDNA level and p.Gln97Ter (Q97X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with Cowden syndrome (Nelen 1999) and is considered pathogenic.
Invitae RCV000645061 SCV000766801 pathogenic PTEN hamartoma tumor syndrome 2019-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln97*) 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 been reported in an individual affected with Cowden syndrome (PMID: 10234502). ClinVar contains an entry for this variant (Variation ID: 189483). 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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