ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.404G>C (p.Cys135Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005402362 SCV006060065 likely pathogenic not provided 2024-10-23 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: loss of growth suppression and non-functional transcriptional activation activity (PMID: 30224644, 29979965); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30224644, 29979965, 30661751, 15510160)

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