ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.437T>G (p.Leu146Ter) (rs786204933)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198975 SCV000253835 pathogenic PTEN hamartoma tumor syndrome 2016-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 146 (p.Leu146*). It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in PTEN are known to be pathogenic (PMID: 9467011, 21194675). Furthermore, a deletion of this nucleotide (c.437delT) which also results in the same nonsense mutation (p.Leu146*), has been reported in a patient with Cowden syndrome (PMID: 21406108). For these reasons, this variant has been classified as Pathogenic.

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