ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.733C>T (p.Gln245Ter) (rs786202918)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756578 SCV000884426 pathogenic not provided 2017-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165985 SCV000216743 pathogenic Hereditary cancer-predisposing syndrome 2018-04-26 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)
Herman Laboratory,Nationwide Children's Hospital RCV000490581 SCV000579287 pathogenic PTEN hamartoma tumor syndrome 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV000490581 SCV000645615 pathogenic PTEN hamartoma tumor syndrome 2017-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 245 (p.Gln245*) 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 a family affected with Cowden disease (PMID: 9467011). For these reasons, this variant has been classified as Pathogenic.

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