ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.406C>T (p.Gln136Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002569348 SCV003443738 pathogenic Li-Fraumeni syndrome 2022-09-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects TP53 function (PMID: 20128691). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This premature translational stop signal has been observed in individual(s) with clinical features of Li-Fraumeni syndrome (PMID: 9242456). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln136*) 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).
Baylor Genetics RCV003475387 SCV004204288 pathogenic Adrenocortical carcinoma, hereditary 2021-10-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004067553 SCV004932181 pathogenic Li-Fraumeni syndrome 1 2024-02-13 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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