ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.155A>G (p.Gln52Arg) (rs774656101)

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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 RCV000562350 SCV000664393 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000227571 SCV000285176 uncertain significance Li-Fraumeni syndrome 2018-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 52 of the TP53 protein (p.Gln52Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 237942). 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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