ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.776A>C (p.Asp259Ala)

dbSNP: rs745425759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Pathology & Laboratory Medicine, University Of Pennsylvania RCV003449010 SCV004176804 pathogenic Malignant lymphoma, large B-cell, diffuse 2023-12-04 no assertion criteria provided clinical testing Post-initial therapy specimen. This represents a loss of function missense mutation (p.D259A) previously reported in a case of esophageal carcinoma (PMID: 10414702). TP53 mutations are known drivers of DLBCL (PMID: 28985567)

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