Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210554 | SCV001382048 | uncertain significance | Li-Fraumeni syndrome | 2019-06-06 | criteria provided, single submitter | clinical testing | This variant has been reported to have conflicting or insufficient data to determine the effect on TP53 protein function (PMID: 29225734). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 not been reported in the literature in individuals with TP53-related conditions. This sequence change replaces glutamine with proline at codon 38 of the TP53 protein (p.Gln38Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). |