ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.125T>C (p.Leu42Pro)

dbSNP: rs1859096966
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Total submissions: 1
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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.

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