Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689896 | SCV000817566 | pathogenic | PTEN hamartoma tumor syndrome | 2019-12-16 | 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). ClinVar contains an entry for this variant (Variation ID: 569301). 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. |