Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808640 | SCV000948754 | pathogenic | Li-Fraumeni syndrome | 2022-10-09 | criteria provided, single submitter | clinical testing | This variant occurs in a non-coding region of the TP53 gene. It does not change the encoded amino acid sequence of the TP53 protein. A similar copy number variant has been observed in individual(s) with Li-Fraumeni syndrome (PMID: 9242456, 18511570, 23172776, 25762628). It has also been observed to segregate with disease in related individuals. Studies have shown that a similar copy number variant alters TP53 gene expression (PMID: 23172776, 25762628). The region of the TP53 gene that includes the promoter has been determined to be clinically significant (PMID: 9242456, 18511570, 23172776). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |