ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.723dup (p.Glu242Ter) (rs1060500115)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457162 SCV000541595 pathogenic PTEN hamartoma tumor syndrome 2019-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu242*) 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 observed in individual(s) with clinical features of PTEN hamartoma tumor syndrome (PMID: 16952599, 29510612). ClinVar contains an entry for this variant (Variation ID: 404149). 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 RCV000491549 SCV000579974 pathogenic Hereditary cancer-predisposing syndrome 2018-07-16 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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