Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816616 | SCV000957133 | pathogenic | Li-Fraumeni syndrome | 2021-09-16 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TP53 gene has been identified. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with clinical features of Li-Fraumeni Syndrome (PMID: 20522432, 23172776). For these reasons, this variant has been classified as Pathogenic. |