ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.796G>T (p.Gly266Ter)

dbSNP: rs1057519990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227077 SCV001399416 pathogenic Li-Fraumeni syndrome 2019-10-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 30630526). Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gly266*) in the TP53 gene. It is expected to result in an absent or disrupted protein product.
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research RCV003129744 SCV003806316 pathogenic Lung adenocarcinoma 2022-06-06 criteria provided, single submitter research

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