ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.538G>T (p.Glu180Ter)

dbSNP: rs879253911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004027338 SCV004932395 pathogenic Li-Fraumeni syndrome 1 2024-02-14 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.
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785283 SCV000923851 pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University RCV004001539 SCV004046826 likely pathogenic Adrenal cortex carcinoma no assertion criteria provided clinical testing

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