ClinVar Miner

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

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Total submissions: 3
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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 2019-10-23 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 been observed in individuals affected with breast cancer (PMID: 30287823). ClinVar contains an entry for this variant (Variation ID: 536547). This variant has been reported not to substantially affect PTEN protein function (PMID: 29706350, 29785012). 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.
Ambry Genetics RCV001018047 SCV001179226 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-19 criteria provided, single submitter clinical testing Insufficient evidence
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030729 SCV001193697 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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