ClinVar Miner

Submissions for variant NC_000017.11:g.(?_7687606)_(7688293_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808640 SCV000948754 pathogenic Li-Fraumeni syndrome 2022-10-09 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the TP53 gene. It does not change the encoded amino acid sequence of the TP53 protein. A similar copy number variant has been observed in individual(s) with Li-Fraumeni syndrome (PMID: 9242456, 18511570, 23172776, 25762628). It has also been observed to segregate with disease in related individuals. Studies have shown that a similar copy number variant alters TP53 gene expression (PMID: 23172776, 25762628). The region of the TP53 gene that includes the promoter has been determined to be clinically significant (PMID: 9242456, 18511570, 23172776). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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