ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.204C>G (p.Tyr68Ter) (rs773176120)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531588 SCV000645555 pathogenic PTEN hamartoma tumor syndrome 2017-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr68*) 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 particular variant has been reported in an individual with endometrial cancer (PMID: 18757403). A different PTEN mutation that causes the same p.Tyr68* change, c.204C>A, has been reported in two individuals with Cowden syndrome (PMID: 21194675). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001014236 SCV001174921 pathogenic Hereditary cancer-predisposing syndrome 2018-02-13 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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