Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071356 | SCV001236653 | pathogenic | PTEN hamartoma tumor syndrome | 2021-07-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Lys128 amino acid residue in PTEN. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17526800, 25669429, 23399955). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been reported to have conflicting or insufficient data to determine the effect on PTEN protein function (PMID:16829519, 21828076, 10555148). This variant has been observed in individual(s) with clinical features of PTEN-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 128 of the PTEN protein (p.Lys128Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. |