ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.322G>C (p.Gly108Arg) (rs587782461)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777270 SCV000912972 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV000527049 SCV000629803 uncertain significance Li-Fraumeni syndrome 2017-09-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 108 of the TP53 protein (p.Gly108Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine 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. Experimental studies in yeast have shown that this variant partially impairs transcriptional 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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