ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.790del (p.Leu264fs)

dbSNP: rs1060501194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472594 SCV000545287 pathogenic Li-Fraumeni syndrome 2022-12-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 406573). 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 sequence change creates a premature translational stop signal (p.Leu264Tyrfs*81) 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).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506102 SCV000605424 pathogenic not specified 2017-02-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289593 SCV002582460 pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289592 SCV002583120 pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing

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