ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.900del (p.Ile300fs) (rs797045904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194729 SCV000248622 pathogenic Macrocephaly/autism syndrome 2015-06-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567077 SCV000666982 pathogenic Hereditary cancer-predisposing syndrome 2017-02-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000645072 SCV000766814 pathogenic PTEN hamartoma tumor syndrome 2017-09-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile300Metfs*7) 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 reported in several individuals affected with Cowden syndrome and/or Bannayan-Riley-Ruvalcaba syndrome (PMID: 21659347). ClinVar contains an entry for this variant (Variation ID: 211972). 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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