ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.521G>A (p.Arg174Lys)

dbSNP: rs1064796681
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478775 SCV000573639 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 14559903, 12826609, 23990032, 7682763, 20407015, 24728327, 9843948, 17043642, 29979965)

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