ClinVar Miner

Submissions for variant NM_001304718.2(PTEN):c.-70T>G (rs786201867)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000602694 SCV000731827 likely pathogenic PTEN hamartoma tumor syndrome 2018-02-05 criteria provided, single submitter clinical testing The p.Tyr174X variant in PTEN has not been previously reported in individuals wi th PTEN-associated phenotypes or in large population studies. This nonsense vari ant leads to a premature termination codon at position 174, which is predicted t o lead to a truncated or absent protein. Heterozygous loss of function of the PT EN gene is an established disease mechanism in individuals with PTEN hamartoma t umor syndrome. In summary, although additional studies are required to fully est ablish its clinical significance, the p.Tyr174X variant is likely pathogenic. ACMG/AMP criteria applied: PVS1, PM2 (Richards 2015).

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