ClinVar Miner

Submissions for variant NC_000017.11:g.(?_7674811)_(7676594_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001033125 SCV001196432 likely pathogenic Li-Fraumeni syndrome 2021-08-12 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 2-6 of the TP53 gene. This region includes the initiator codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number variant has been observed in individuals with early-onset breast cancer and Li-Fraumeni syndrome (PMID: 23612572; Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, 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.

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