ClinVar Miner

Submissions for variant NC_000017.10:g.(?_7578283)_(7578750_?)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 RCV004581165 SCV005065259 pathogenic Li-Fraumeni syndrome 2019-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant disrupts the p.Arg181 amino acid residue in TP53. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20128691, 21343334, 11429705, 1581912, 8308926, 15925506). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with TP53-related conditions. This variant results in the deletion of exon 5 and part of exon 6 (c.376-196_566del ) of the TP53 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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