ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.786_796del (p.Asn263fs)

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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 RCV003622561 SCV004404801 pathogenic Li-Fraumeni syndrome 2022-10-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn263Thrfs*5) in 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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