Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001057957 | SCV001222487 | uncertain significance | PTEN hamartoma tumor syndrome | 2019-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 42 of the PTEN protein (p.Leu42Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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. This variant has been reported to affect PTEN protein function (PMID:25875300). 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 conditions. |