Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205575 | SCV001376837 | uncertain significance | PTEN hamartoma tumor syndrome | 2019-06-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with PTEN-related conditions. This sequence change replaces tryptophan with glycine at codon 111 of the PTEN protein (p.Trp111Gly). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to affect PTEN protein function (PMID: 29706350). 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. |