ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.-202_*1207del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231533 SCV000285169 pathogenic Li-Fraumeni syndrome 2016-04-01 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. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A similar deletion encompassing the full coding sequence of the TP53 gene has been reported in the literature in a 66 year old female with breast cancer at 46 and leiomyosarcoma at 49 (PMID: 23172776). Additionally, a study evaluating eight probands with deletion events involving the TP53 gene suggests that full-length deletions of the entire TP53 gene have a milder cancer-predisposition phenotype than partial deletions of TP53 (PMID: 21056402). This variant has been classified as Pathogenic.

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