ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.335T>C (p.Leu112Pro) (rs121909230)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000304615 SCV000329476 pathogenic not provided 2017-06-28 criteria provided, single submitter clinical testing The L112P pathogenic variant in the PTEN gene has been reported previously as a de novo variant inan individual with a severe presentation of Cowden syndrome (Tsou et al., 1998) Functional studieshave shown that L112P, located within the phosphatase tensin-type domain, causes destabilization ofthe protein, lowered expression, and impaired downregulation of AKT phosphorylation (Spinelli et al.,2015). The L112P variant was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations.. The L112P variant is a semi-conservative amino acidsubstitution that alters a conserved position in the protein. Missense variants in nearby residues havebeen reported in the Human Gene Mutation Database in association with PHTS (Stenson et al., 2014),supporting the functional importance of this region of the protein.
OMIM RCV000008278 SCV000028485 pathogenic Lhermitte-Duclos disease 1999-02-12 no assertion criteria provided literature only

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