ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.508A>C (p.Ser170Arg) (rs1554900534)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689896 SCV000817566 pathogenic PTEN hamartoma tumor syndrome 2018-02-27 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 170 of the PTEN protein (p.Ser170Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (PMID: 21194675, 21659347, 10400993, 20712882, 23117110, 17526800, 9467011). Experimental studies have shown that this missense change disrupts PTEN function (PMID: 21828076, 9256433, 10866302, 17942903). For these reasons, this variant has been classified as Pathogenic.

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