ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.25A>C (p.Ser9Arg) (rs1555527017)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633332 SCV000754554 uncertain significance Li-Fraumeni syndrome 2017-10-31 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 9 of the TP53 protein (p.Ser9Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. 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. An experimental study has shown that this missense change does not affect the transactivation activity of the TP53 protein in yeast-based assays (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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