ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.503A>G (p.His168Arg) (rs867114783)

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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 RCV000492442 SCV000581095 likely pathogenic Hereditary cancer-predisposing syndrome 2016-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification,Structural Evidence,Deficient protein function in appropriate functional assay(s)
Invitae RCV000702915 SCV000831791 uncertain significance Li-Fraumeni syndrome 2018-09-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 168 of the TP53 protein (p.His168Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine 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. ClinVar contains an entry for this variant (Variation ID: 428866). An experimental study in yeast has shown that this variant can affect 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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