ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.838_840del (p.Arg280del)

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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 RCV002810938 SCV003205190 pathogenic Li-Fraumeni syndrome 2023-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TP53 protein in which other variant(s) (p.Arg280Thr) have been determined to be pathogenic (PMID: 12826609, 22999923, 25927356, 28135145, 29979965, 30224644). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 2001127). This variant has not been reported in the literature in individuals affected with TP53-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.838_840del, results in the deletion of 1 amino acid(s) of the TP53 protein (p.Arg280del), but otherwise preserves the integrity of the reading frame.

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