Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214838 | SCV001386543 | uncertain significance | PTEN hamartoma tumor syndrome | 2019-04-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with PTEN-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported not to substantially affect PTEN protein function (PMID: 29706350). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 329 of the PTEN protein (p.Asn329Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. |