ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.144C>A (p.Asn48Lys) (rs762518389)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704361 SCV000833306 pathogenic PTEN hamartoma tumor syndrome 2019-06-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 48 of the PTEN protein (p.Asn48Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with PTEN hamartoma syndrome and has been found in several unrelated individuals affected with PTEN hamartoma syndrome (PMID: 17526800, 14675182, 24498881, 25527629). ClinVar contains an entry for this variant (Variation ID: 580731). Experimental studies have shown that this missense change reduces the ability of PTEN to suppress cellular AKT phosphorylation (PMID: 14675182, 17942903, 21828076, 24498881, 25527629). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001011640 SCV001171986 likely pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family;Deficient protein function in appropriate functional assay(s);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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