ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.529C>A (p.Pro177Thr) (rs147002414)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574871 SCV000667195 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000687535 SCV000815107 uncertain significance Li-Fraumeni syndrome 2018-06-12 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 177 of the TP53 protein (p.Pro177Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. 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. ClinVar contains an entry for this variant (Variation ID: 482220). An experimental study in yeast has shown that this variant partially impairs the transcriptional transactivation activity of the TP53 protein (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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