ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.139A>G (p.Arg47Gly) (rs786204855)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645054 SCV000766794 uncertain significance PTEN hamartoma tumor syndrome 2017-12-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 47 of the PTEN protein (p.Arg47Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Cowden syndrome (PMID: 11494117). Experimental studies have shown that this missense change results in reduced PTEN activity (PMID: 25429968). 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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