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 Lines of evidence used in support of classification: 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 2016-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 16 (p.Tyr16*) of the PTEN gene. It 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 in the literature in individuals with Cowden-like syndrome (PMID: 21194675). For these reasons, this variant has been classified as Pathogenic.

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