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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