ClinVar Miner

Submissions for variant NC_000017.10:g.(?_7571752)_(7578574_?)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 RCV004579980 SCV005065255 pathogenic Li-Fraumeni syndrome 2023-11-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5-11 of the TP53 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with TP53-related conditions. The region of the TP53 gene that includes exon(s) 7-9 has been determined to be clinically significant (PMID: 21505135). 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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