ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.48T>A (p.Tyr16Ter) (rs587782187)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130817 SCV000185713 pathogenic Hereditary cancer-predisposing syndrome 2018-03-30 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000212878 SCV000222174 pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing The Y16X mutation in the PTEN gene has been reported previously in association with a PTEN-related disorder (Min-Han et al., 2011). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in PTEN panel(s).
Invitae RCV000477134 SCV000541589 pathogenic PTEN hamartoma tumor syndrome 2019-07-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr16*) 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 individuals affected with Cowden-like syndrome or breast cancer (PMID: 21194675, 28724667). ClinVar contains an entry for this variant (Variation ID: 142027). 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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