ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.35C>T (p.Pro12Leu) (rs1482497533)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772527 SCV000905707 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-19 criteria provided, single submitter clinical testing
Invitae RCV000633363 SCV000754585 uncertain significance Li-Fraumeni syndrome 2017-11-03 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 12 of the TP53 protein (p.Pro12Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. Experimental studies in a yeast functional assay have found that this variant does not impact TP53 transactivation activity (PMID: 12826609). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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