ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.-202_-29+?dup174

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000240594 SCV000299115 uncertain significance Li-Fraumeni syndrome 2016-08-22 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing non-coding exon 1 and the 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 intron 1 of the TP53 gene. This gross duplication is not present in population databases and it has not been reported in the literature in patients with a TP53-related disease. In summary, this is a novel duplication involving non-coding exon 1 and the promoter region of TP53. However the genomic location and orientation of the duplicated sequence is unknown. For these reasons, this change has been classified as a Variant of Uncertain Significance.

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