Total submissions: 3
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, |
RCV001030729 | SCV001193697 | uncertain significance | Hereditary breast and ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research |