Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001227077 | SCV001399416 | pathogenic | Li-Fraumeni syndrome | 2019-10-22 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 30630526). Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gly266*) in the TP53 gene. It is expected to result in an absent or disrupted protein product. |
Liquid Biopsy and Cancer Interception Group, |
RCV003129744 | SCV003806316 | pathogenic | Lung adenocarcinoma | 2022-06-06 | criteria provided, single submitter | research |