ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.633C>A (p.Cys211Ter) (rs121909232)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490942 SCV000579964 pathogenic Hereditary cancer-predisposing syndrome 2017-01-23 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)
Counsyl RCV000409569 SCV000487763 pathogenic Cowden syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000820375 SCV000961084 pathogenic PTEN hamartoma tumor syndrome 2018-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys211*) 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 syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS), collectively also known as PTEN hamartoma tumor syndrome (PMID: 11476841, 24778394, 21659347, 16773562, 21956414, 22371648, 16007494). ClinVar contains an entry for this variant (Variation ID: 7836). Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008284 SCV000028491 pathogenic Cutaneous melanoma 2000-09-01 no assertion criteria provided literature only

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