ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.432G>T (p.Gln144His)

dbSNP: rs786201419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753853 SCV002005618 uncertain significance not provided 2019-07-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign in the germline to our knowledge; This variant is associated with the following publications: (PMID: 29979965, 12010886, 26619011)

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