ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.859T>C (p.Ser287Pro) (rs1554825526)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645049 SCV000766789 uncertain significance PTEN hamartoma tumor syndrome 2017-11-13 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 287 of the PTEN protein (p.Ser287Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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