ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.956_959del (p.Thr319fs) (rs398123330)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078630 SCV000110486 pathogenic not provided 2013-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491886 SCV000580026 pathogenic Hereditary cancer-predisposing syndrome 2013-09-09 criteria provided, single submitter clinical testing
Invitae RCV000801647 SCV000941434 pathogenic PTEN hamartoma tumor syndrome 2019-11-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PTEN gene (p.Thr319Lysfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 85 amino acids of the PTEN protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Cowden or Cowden-like syndrome (PMID: 21194675). ClinVar contains an entry for this variant (Variation ID: 92836). This variant disrupts the C-terminus of the PTEN protein. Other variant(s) that disrupt this region (p.Ala333Serfs*10) have been determined to be pathogenic (PMID: 10468583, 10698513, 24905788, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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