ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.506T>G (p.Met169Arg)

dbSNP: rs1567553114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689187 SCV000816827 uncertain significance Li-Fraumeni syndrome 2018-02-15 criteria provided, single submitter clinical testing An experimental study has shown that this missense change does not 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. This variant has not been reported in the literature in individuals with TP53-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with arginine at codon 169 of the TP53 protein (p.Met169Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine.

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