ClinVar Miner

Submissions for variant NM_000314.6(PTEN):c.464A>G (p.Tyr155Cys) (rs1060500126)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491012 SCV000579967 pathogenic Inborn genetic diseases 2014-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000475421 SCV000541626 likely pathogenic PTEN hamartoma tumor syndrome 2017-10-02 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 155 of the PTEN protein (p.Tyr155Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Cowden syndrome or PTEN hamartoma tumor syndrome (PMID: 12614768, 23399955, 17942903, 23335809, 27531073). In addition, two different missense substitutions at this codon (p.Tyr155Asn, p.Tyr155His) have been reported in individuals affected with Cowden syndrome or PTEN hamartoma tumor syndrome (PMID: 23335809, 21194675). ClinVar contains an entry for this variant (Variation ID: 404168). Experimental studies have shown that this missense change abolishes the phosphatase activity of the PTEN protein in vitro, which is critical for its tumor suppressor function (PMID: 21828076, 17942903, 10866302). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine RCV000656112 SCV000598612 uncertain significance Cowden syndrome 1 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development

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