ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.229C>A (p.Pro77Thr) (rs753085009)

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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 RCV000563835 SCV000667190 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000546598 SCV000629793 uncertain significance Li-Fraumeni syndrome 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 77 of the TP53 protein (p.Pro77Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs753085009, ExAC 0.002%). This variant has not been reported in the literature in individuals with a TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 458528). An experimental study in yeast has shown that this variant does not impair 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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