ClinVar Miner

Submissions for variant NC_000017.11:g.(?_7674811)_(7676594_?)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 RCV001032419 SCV001195726 pathogenic Li-Fraumeni syndrome 2022-02-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-6 of the TP53 gene, which includes the initiator codon. The 5' boundary is likely confined to intron 1 of the TP53 gene, but does not affect the promoter or non-coding exon 1. The 3' boundary is likely confined to intron 6 of the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant has not been reported in the literature in individuals affected with TP53-related conditions. For these reasons, this variant has been classified as Pathogenic.

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