ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.720C>G (p.Tyr240Ter) (rs190070312)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693897 SCV000822320 pathogenic PTEN hamartoma tumor syndrome 2018-06-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr240*) 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 not been reported in the literature in individuals with PTEN-related disease. A different variant (c.720C>A) giving rise to the same protein effect observed here (p.Tyr240*) has been reported in an individual affected with Cowden syndrome (PMID: 24778394, 21194675), indicating that the deleted amino acid residues may be critical for protein function. 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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