ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)

dbSNP: rs137852790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002514608 SCV003236108 pathogenic Li-Fraumeni syndrome 2022-09-21 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.Pro152Arg) have been determined to be pathogenic (PMID: 12826609, 29979965, 30224644; Invitae). 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: 133282). 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.448_459del, results in the deletion of 4 amino acid(s) of the TP53 protein (p.Thr150_Pro153del), but otherwise preserves the integrity of the reading frame.
Myriad Genetics, Inc. RCV004019663 SCV004931432 likely pathogenic Li-Fraumeni syndrome 1 2024-02-14 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad internal data].
Laboratory of Translational Genomics, National Cancer Institute RCV000119795 SCV000154267 not provided Sarcoma no assertion provided not provided

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