ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.794T>C (p.Leu265Pro)

dbSNP: rs1335033900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558943 SCV000645623 uncertain significance PTEN hamartoma tumor syndrome 2017-04-17 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 265 of the PTEN protein (p.Leu265Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PTEN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV003319371 SCV004023318 pathogenic Cowden syndrome 1 no assertion criteria provided clinical testing

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