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	2016-12-20	criteria provided, single submitter	clinical testing	This sequence change inserts 1 nucleotide in exon 7 of the PTEN mRNA (c.723dupT), causing a frameshift at codon 242. This creates a premature translational stop signal (p.Glu242*) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic. This particular variant has been reported de novo in the literature in an individual affected with Bannayan-Ruvalcaba-Riley syndrome (PMID: 16952599). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV000491549	SCV000579974	pathogenic	Hereditary cancer-predisposing syndrome	2015-09-12	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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