ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.313G>C (p.Gly105Arg) (rs1060501195)

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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 RCV000492606 SCV000581141 likely pathogenic Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Well-characterized mutation at same position,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other strong data supporting pathogenic classification,Other data supporting pathogenic classification
Invitae RCV000475325 SCV000545290 uncertain significance Li-Fraumeni syndrome 2016-09-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 105 of the TP53 protein (p.Gly105Arg). 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) and has not been reported in the literature in individuals with a TP53-related disease. An experimental study has shown that this missense change significantly reduces the transcriptional transactivation activity of the TP53 protein in yeast-based assays (PMID: 12826609). In summary, this variant is a novel missense change that has been shown to disrupt protein function in vitro. However, without additional functional and/or genetic data, it has been classified as a Variant of Uncertain Significance.

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