ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.-202_-29+?del

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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 RCV000240300 SCV000299114 likely pathogenic Li-Fraumeni syndrome 2016-05-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing the non-coding exon 1 and promoter region of the TP53 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene, and therefore may encompass additional genes. The 3' boundary is likely confined to the region between exon 1 (non-coding) and exon 2. Similar deletions involving the non-coding exon 1 and promoter regions of TP53 have been reported in the literature in several families with Li-Fraumeni syndrome (PMID: 23172776, 18511570, 9242456). TP53 mRNA expression analysis has shown that deletions of the non-coding exon 1 and promoter region result in reduced TP53 mRNA expression in patient-derived samples and cell lines (PMID: 23172776). For these reasons, this variant has been classified as Likely Pathogenic.

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