ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645054 SCV000766794 pathogenic PTEN hamartoma tumor syndrome 2019-09-27 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 observed in individual(s) with PTEN-related conditions (PMID: 11494117, Invitae). In at least one individual the variant was observed to be de novo. Experimental studies have shown that this missense change results in reduced PTEN activity (PMID: 25429968). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001011384 SCV001171695 likely pathogenic Hereditary cancer-predisposing syndrome 2019-09-30 criteria provided, single submitter clinical testing Other strong data supporting pathogenic classification

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