Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000633421 | SCV000754643 | likely pathogenic | Li-Fraumeni syndrome | 2019-09-17 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 2-6 of the TP53 gene, which includes the initiator codon. The 5' end of this event is likely confined to intron 1 of the TP53 gene, but does not affect the promoter or non-coding exon 1. The 3' boundary is likely confined to intron 6 of the TP53 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant has been observed in individuals with early-onset breast cancer (Invitae). Additionally, a similar duplication of exons 2-4 has been reported in an individual affected with Li-Fraumeni syndrome (PMID: 23612572). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |