ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1204A>G (p.Lys402Glu) (rs1554826064)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645067 SCV000766808 uncertain significance PTEN hamartoma tumor syndrome 2017-09-15 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 402 of the PTEN protein (p.Lys402Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. 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. In an experimental study, this missense change did not affect the PDZ-domain mediated physical interaction of PTEN and PTPN13 (PMID: 25448478). The clinical significance of this finding is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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